• Gene id: 788

Gene Summary

• Gene Symbol: SLC25A20   Gene   UCSC   Ensembl
• Aliases: CAC, CACT
• Gene name: solute carrier family 25 member 20
• Alternate names: mitochondrial carnitine/acylcarnitine carrier protein, solute carrier family 25 (carnitine/acylcarnitine translocase), member 20,
• Gene location: 3p21.31 (48898881: 48856925)     Exons: 9     NC_000003.12
• Gene summary(Entrez): This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix fo

SNPs

rs2231599

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

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs759981524

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

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

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

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

Protein Summary

• Protein general information: O43772  
  • Name: Mitochondrial carnitine/acylcarnitine carrier protein (Carnitine/acylcarnitine translocase) (CAC) (Solute carrier family 25 member 20)
  • Length: 301  
  • Mass: 32944
• Sequence:

  MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITGLYRGM
  AAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYT
  GTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWA
  VAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPN
  L

• Structural information:
  • Interpro: IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000326305
• Other Databases: GeneCards:  SLC25A20  Malacards:  SLC25A20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015227	acyl carnitine transmembrane transporter activity	EXP	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006853	carnitine shuttle	TAS	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1902616	acyl carnitine transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Carnitine-acylcarnitine translocase deficiency	KEGG:H01983
Secondary hyperammonemia	KEGG:H01400
Disorders of mitochondrial fatty-acid oxidation	KEGG:H00525
Carnitine-acylcarnitine translocase deficiency	KEGG:H01983
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq