• Gene id: 4329

Gene Summary

• Gene Symbol: ALDH6A1   Gene   UCSC   Ensembl
• Aliases: MMSADHA, MMSDH
• Gene name: aldehyde dehydrogenase 6 family member A1
• Alternate names: methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial, malonate-semialdehyde dehydrogenase, malonate-semialdehyde dehydrogenase (acetylating), mitochondrial acylating methylmalonate-semialdehyde dehydrogenase, testicular tissue protein Li 122,
• Gene location: 14q24.3 (74084452: 74056846)     Exons: 22     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irrever
• OMIM: 603178

Protein Summary

• Protein general information: Q02252  
  • Name: Methylmalonate semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) (Malonate semialdehyde dehydrogenase [acylating]) (EC 1.2.1.18) (EC 1.2.1.27) (Aldehyde dehydrogenase family 6 member A1)
  • Length: 535  
  • Mass: 57840
• Sequence:

  MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQAT
  KAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACS
  VTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLL
  QDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKEN
  TLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGT
  KEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIF
  TTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSS
  PAVVMPTMGR

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR016162  IPR015590   IPR010061  
  • Prosite: PS00070
  • CDD: cd07085
  • STRING: ENSP00000450436
• Other Databases: GeneCards:  ALDH6A1  Malacards:  ALDH6A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006574	valine catabolic process	IBA	biological process
GO:0006573	valine metabolic process	IBA	biological process
GO:0006210	thymine catabolic process	IBA	biological process
GO:0018478	malonate-semialdehyde dehydrogenase (acetylating) activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0004491	methylmalonate-semialdehyde dehydrogenase (acylating) activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004491	methylmalonate-semialdehyde dehydrogenase (acylating) activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	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:0018478	malonate-semialdehyde dehydrogenase (acetylating) activity	IEA	molecular function
GO:0004491	methylmalonate-semialdehyde dehydrogenase (acylating) activity	IEA	molecular function
GO:0004491	methylmalonate-semialdehyde dehydrogenase (acylating) activity	TAS	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0004491	methylmalonate-semialdehyde dehydrogenase (acylating) activity	IMP	molecular function
GO:0006210	thymine catabolic process	IMP	biological process
GO:0006574	valine catabolic process	IMP	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0019859	thymine metabolic process	ISS	biological process
GO:0006573	valine metabolic process	ISS	biological process
GO:0000062	fatty-acyl-CoA binding	ISS	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0018478	malonate-semialdehyde dehydrogenase (acetylating) activity	ISS	molecular function
GO:0005739	mitochondrion	NAS	cellular component
GO:0004491	methylmalonate-semialdehyde dehydrogenase (acylating) activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa00562	Inositol phosphate metabolism
hsa00280	Valine, leucine and isoleucine degradation
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism

Diseases

Associated diseases	References
Methylmalonate semialdehyde dehydrogenase deficiency	KEGG:H02285
Methylmalonate semialdehyde dehydrogenase deficiency	KEGG:H02285
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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