• Gene id: 34

Gene Summary

• Gene Symbol: ACADM   Gene   UCSC   Ensembl
• Aliases: ACAD1, MCAD, MCADH
• Gene name: acyl-CoA dehydrogenase medium chain
• Alternate names: medium-chain specific acyl-CoA dehydrogenase, mitochondrial, acyl-CoA dehydrogenase, C-4 to C-12 straight chain, acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, medium-chain acyl-CoA dehydrogenase, testicular tissue protein Li 7,
• Gene location: 1p31.1 (75724346: 75763678)     Exons: 13     NC_000001.11
• Gene summary(Entrez): This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-C
• OMIM: 607008

SNPs

rs875989885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs868256749

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63617303C>T
NC_000012.11   g.64011083C>T
NG_031909.1   g.56272G>A|SEQ=[C/T]|GENE=DPY19L2

rs774225566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

rs751879424

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000012.12   g.63617339del
NC_000012.11   g.64011119del
NG_031909.1   g.56236del
NM_173812.4   c.1183del
NM_173812.5   c.1183del
XM_011538218.3   c.172del
XR_001748666.2   n.1335del
XM_006719352.2   c.754del
XM_017019192.2   c.1033del
XM_017019203.2   c.238del
XM_0170  

rs587777206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624101G>A
NC_000012.11   g.64017881G>A
NG_031909.1   g.49474C>T
NM_173812.4   c.892C>T
NM_173812.5   c.892C>T
XR_001748666.2   n.1044C>T
XM_006719352.2   c.463C>T
XM_017019193.2   c.589C>T
XM_011538215.2   c.379C>T
XR_002957317.1   n.1044C>T
XR_002957  

rs587777205

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63569312T>A
NC_000012.12   g.63569312T>G
NC_000012.11   g.63963092T>A
NC_000012.11   g.63963092T>G
NG_031909.1   g.104263A>T
NG_031909.1   g.104263A>C
NM_173812.4   c.2038A>T
NM_173812.4   c.2038A>C
NM_173812.5   c.2038A>T
NM_173812.5   c.2038A>C
XM_011  

rs587777031

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000010.11   g.119030032_119030034CTC[1]
NC_000010.11   g.119030032_119030034CTC[3]
NC_000010.11   g.119030032_119030034CTC[5]
NC_000010.10   g.120789544_120789546CTC[1]
NC_000010.10   g.120789544_120789546CTC[3]
NC_000010.10   g.120789544_120789546CTC[5]
NG_0  

rs147579680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.63624124C>T
NC_000012.11   g.64017904C>T
NG_031909.1   g.49451G>A
NM_173812.4   c.869G>A
NM_173812.5   c.869G>A
XR_001748666.2   n.1021G>A
XM_006719352.2   c.440G>A
XM_017019193.2   c.566G>A
XM_011538215.2   c.356G>A
XR_002957317.1   n.1021G>A
XR_002957  

rs118204043

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116628175C>T
NC_000006.11   g.116949338C>T
NG_012934.1   g.16697C>T
NM_001010892.2   c.1468C>T
NM_001010892.3   c.1468C>T
NM_001161664.1   c.1468C>T
XM_017010826.1   c.1468C>T
NP_001010892.1   p.Arg490Ter
NP_001155136.1   p.Arg490Ter
XP_016866315.1   p.

rs118204042

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116616948C>T
NC_000006.11   g.116938111C>T
NG_012934.1   g.5470C>T
NM_001010892.2   c.325C>T
NM_001010892.3   c.325C>T
NM_001161664.1   c.325C>T
XM_017010826.1   c.325C>T
NP_001010892.1   p.Gln109Ter
NP_001155136.1   p.Gln109Ter
XP_016866315.1   p.Gln10

rs118204041

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116617083C>T
NC_000006.11   g.116938246C>T
NG_012934.1   g.5605C>T
NM_001010892.2   c.460C>T
NM_001010892.3   c.460C>T
NM_001161664.1   c.460C>T
XM_017010826.1   c.460C>T
NP_001010892.1   p.Gln154Ter
NP_001155136.1   p.Gln154Ter
XP_016866315.1   p.Gln15

rs12323635

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs11531577

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100180604G>T
NC_000007.13   g.99778227G>T
NG_034114.1   g.7881G>T
NM_012447.4   c.48G>T
NM_012447.3   c.48G>T
NM_012447.2   c.48G>T
NM_001282718.2   c.48G>T
NM_001282718.1   c.48G>T
NM_001282717.1   c.48G>T
NM_001282716.1   c.48G>T
XM_017011683.2   c.48G>

rs11204546

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.247896410T>A
NC_000001.11   g.247896410T>C
NC_000001.11   g.247896410T>G
NC_000001.10   g.248059712T>A
NC_000001.10   g.248059712T>C
NC_000001.10   g.248059712T>G
NG_053132.1   g.5824T>A
NG_053132.1   g.5824T>C
NG_053132.1   g.5824T>G
NM_001001957.2   c

rs10841496

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs3816183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs13078

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95090410A>C
NC_000014.9   g.95090410A>T
NC_000014.8   g.95556747A>C
NC_000014.8   g.95556747A>T
NG_016311.1   g.72013T>G
NG_016311.1   g.72013T>A
NM_030621.4   c.*88T>G
NM_030621.4   c.*88T>A
NM_030621.3   c.*88T>G
NM_030621.3   c.*88T>A
NM_177438.3   c.*8

rs12676

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.53823776A>C
NC_000003.12   g.53823776A>T
NC_000003.11   g.53857803A>C
NC_000003.11   g.53857803A>T
NG_028042.1   g.27618T>G
NG_028042.1   g.27618T>A
NM_018397.5   c.233T>G
NM_018397.5   c.233T>A
NM_018397.4   c.233T>G
NM_018397.4   c.233T>A
XM_006713251  

rs79170274

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.119030036T>A
NC_000010.11   g.119030036T>C
NC_000010.10   g.120789548T>A
NC_000010.10   g.120789548T>C
NG_050764.1   g.5321T>A
NG_050764.1   g.5321T>C
NM_199461.4   c.235T>A
NM_199461.4   c.235T>C
NM_199461.3   c.235T>A
NM_199461.3   c.235T>C
NM_199461.  

rs1727130

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

rs1057035

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95087805T>C
NC_000014.8   g.95554142T>C
NG_016311.1   g.74618A>G
NM_030621.4   c.*2693A>G
NM_030621.3   c.*2693A>G
NM_177438.3   c.*2693A>G
NM_177438.2   c.*2693A>G
NM_001271282.3   c.*2693A>G
NM_001271282.2   c.*2693A>G
NM_001291628.1   c.*2693A>G
NM_00  

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

rs2430561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.68158742T>A
NC_000012.11   g.68552522T>A
NG_015840.1   g.6000A>T|SEQ=[T/A]|GENE=IFNG

rs3021522

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

rs3742330

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95087025A>G
NC_000014.8   g.95553362A>G
NG_016311.1   g.75398T>C
NM_030621.4   c.*3473T>C
NM_030621.3   c.*3473T>C
NM_177438.3   c.*3473T>C
NM_177438.2   c.*3473T>C
NM_001271282.3   c.*3473T>C
NM_001271282.2   c.*3473T>C
NM_001291628.1   c.*3473T>C
NM_00  

rs1422627

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45913480C>G
NC_000019.10   g.45913480C>T
NC_000019.9   g.46416738C>G
NC_000019.9   g.46416738C>T
NM_001029861.2   c.*797G>C
NM_001029861.2   c.*797G>A
NM_001029861.3   c.*797G>C
NM_001029861.3   c.*797G>A|SEQ=[C/G/T]|GENE=NANOS2

rs9304651

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45916515A>G
NC_000019.9   g.46419773A>G|SEQ=[A/G]|GENE=NANOS2

rs2015728

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45915628G>A
NC_000019.10   g.45915628G>T
NC_000019.9   g.46418886G>A
NC_000019.9   g.46418886G>T|SEQ=[G/A/T]|GENE=NANOS2

rs10269148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135230056C>A
NC_000007.14   g.135230056C>G
NC_000007.13   g.134914808C>A
NC_000007.13   g.134914808C>G|SEQ=[C/A/G]|GENE=STRA8

rs17168319

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135230201A>G
NC_000007.13   g.134914953A>G|SEQ=[A/G]|GENE=STRA8

rs17168337

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135258880C>G
NC_000007.13   g.134943632C>G|SEQ=[C/G]|GENE=STRA8

rs4506565

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.112996282A>G
NC_000010.11   g.112996282A>T
NC_000010.10   g.114756041A>G
NC_000010.10   g.114756041A>T
NG_012631.1   g.51033A>G
NG_012631.1   g.51033A>T|SEQ=[A/G/T]|GENE=TCF7L2

rs7903146

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.112998590C>G
NC_000010.11   g.112998590C>T
NC_000010.10   g.114758349C>G
NC_000010.10   g.114758349C>T
NG_012631.1   g.53341C>G
NG_012631.1   g.53341C>T
NG_054085.1   g.746C>G
NG_054085.1   g.746C>T|SEQ=[C/G/T]|GENE=TCF7L2

rs12243326

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.113029056T>C
NC_000010.10   g.114788815T>C
NG_012631.1   g.83807T>C|SEQ=[T/C]|GENE=TCF7L2

rs12255372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.113049143G>A
NC_000010.11   g.113049143G>T
NC_000010.10   g.114808902G>A
NC_000010.10   g.114808902G>T
NG_012631.1   g.103894G>A
NG_012631.1   g.103894G>T|SEQ=[G/A/T]|GENE=TCF7L2

rs2291102

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

Protein Summary

• Protein general information: P11310  
  • Name: Medium chain specific acyl CoA dehydrogenase, mitochondrial (MCAD) (EC 1.3.8.7)
  • Length: 421  
  • Mass: 46588
• Sequence:

  MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEIIPVAAEYDKTGEYPV
  PLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQTAIEGNSLGQMPIIIAGNDQQKKKYLGRMT
  EEPLMCAYCVTEPGAGSDVAGIKTKAEKKGDEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVE
  ADTPGIQIGRKELNMGQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEAT
  KYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAFAGDIANQLATDAVQI
  LGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYKN

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  IPR034180  
  • Prosite: PS00072 PS00073
  • CDD: cd01157
  • PDB: 1EGC 1EGD 1EGE 1T9G 2A1T 4P13
  • PDBsum: 1EGC 1EGD 1EGE 1T9G 2A1T 4P13
  • DIP: 34281
  • STRING: ENSP00000359871
• Other Databases: GeneCards:  ACADM  Malacards:  ACADM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0051793	medium-chain fatty acid catabolic process	IBA	biological process
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IBA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0003995	acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0070991	medium-chain-acyl-CoA dehydrogenase activity	IDA	molecular function
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0051791	medium-chain fatty acid metabolic process	IDA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	biological process
GO:0045329	carnitine biosynthetic process	IMP	biological process
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	biological process
GO:0051793	medium-chain fatty acid catabolic process	IDA	biological process
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0019254	carnitine metabolic process, CoA-linked	IMP	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0030424	axon	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0006635	fatty acid beta-oxidation	IMP	biological process
GO:0003995	acyl-CoA dehydrogenase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03320	PPAR signaling pathway
hsa01212	Fatty acid metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
MCAD deficiency	KEGG:H00488
Secondary hyperammonemia	KEGG:H01400
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
MCAD deficiency	KEGG:H00488
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881