• Gene id: 166785

Gene Summary

• Gene Symbol: MMAA   Gene   UCSC   Ensembl
• Aliases: cblA
• Gene name: metabolism of cobalamin associated A
• Alternate names: methylmalonic aciduria type A protein, mitochondrial, methylmalonic aciduria (cobalamin deficiency) cblA type, mutant adenosylcobalamin,
• Gene location: 4q31.21 (145619384: 145660032)     Exons: 8     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutas
• OMIM: 606767

Protein Summary

• Protein general information: Q8IVH4  
  • Name: Methylmalonic aciduria type A protein, mitochondrial (EC 3.6. . )
  • Length: 418  
  • Mass: 46538
  • Tissue specificity: Widely expressed. Highest expression is observed in liver and skeletal muscle.
• Sequence:

  MPMLLPHPHQHFLKGLLRAPFRCYHFIFHSSTHLGSGIPCAQPFNSLGLHCTKWMLLSDGLKRKLCVQTTLKDHT
  EGLSDKEQRFVDKLYTGLIQGQRACLAEAITLVESTHSRKKELAQVLLQKVLLYHREQEQSNKGKPLAFRVGLSG
  PPGAGKSTFIEYFGKMLTERGHKLSVLAVDPSSCTSGGSLLGDKTRMTELSRDMNAYIRPSPTRGTLGGVTRTTN
  EAILLCEGAGYDIILIETVGVGQSEFAVADMVDMFVLLLPPAGGDELQGIKRGIIEMADLVAVTKSDGDLIVPAR
  RIQAEYVSALKLLRKRSQVWKPKVIRISARSGEGISEMWDKMKDFQDLMLASGELTAKRRKQQKVWMWNLIQESV
  LEHFRTHPTVREQIPLLEQKVLIGALSPGLAADFLLKAFKSRD

• Structural information:
  • Interpro: IPR005129  IPR027417  
  • PDB: 2WWW
  • PDBsum: 2WWW
  • STRING: ENSP00000281317
• Other Databases: GeneCards:  MMAA  Malacards:  MMAA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0003924	GTPase activity	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0003924	GTPase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0019626	short-chain fatty acid catabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Methylmalonic aciduria	KEGG:H00174
Methylmalonic aciduria	KEGG:H00174
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