• Gene id: 326625

Gene Summary

• Gene Symbol: MMAB   Gene   UCSC   Ensembl
• Aliases: ATR, CFAP23, cblB, cob
• Gene name: metabolism of cobalamin associated B
• Alternate names: corrinoid adenosyltransferase, ATP:cob(I)alamin adenosyltransferase, ATP:corrinoid adenosyltransferase, aquocob(I)alamin vitamin B12s adenosyltransferase, cilia and flagella associated protein 23, cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondria,
• Gene location: 12q24.11 (109573579: 109553714)     Exons: 13     NC_000012.12
• Gene summary(Entrez): This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent meth
• OMIM: 607568

Protein Summary

• Protein general information: Q96EY8  
  • Name: Corrinoid adenosyltransferase (EC 2.5.1.17) (Cob(II)alamin adenosyltransferase) (Cob(II)yrinic acid a,c diamide adenosyltransferase) (Cobinamide/cobalamin adenosyltransferase) (Methylmalonic aciduria type B protein)
  • Length: 250  
  • Mass: 27388
  • Tissue specificity: Expressed in liver and skeletal muscle.
• Sequence:

  MAVCGLGSRLGLGSRLGLRGCFGAARLLYPRFQSRGPQGVEDGDRPQPSSKTPRIPKIYTKTGDKGFSSTFTGER
  RPKDDQVFEAVGTTDELSSAIGFALELVTEKGHTFAEELQKIQCTLQDVGSALATPCSSAREAHLKYTTFKAGPI
  LELEQWIDKYTSQLPPLTAFILPSGGKISSALHFCRAVCRRAERRVVPLVQMGETDANVAKFLNRLSDYLFTLAR
  YAAMKEGNQEKIYMKNDPSAESEGL

• Structural information:
  • Interpro: IPR016030  IPR036451  IPR029499  
  • PDB: 2IDX 6D5K 6D5X
  • PDBsum: 2IDX 6D5K 6D5X
  • STRING: ENSP00000445920
• Other Databases: GeneCards:  MMAB  Malacards:  MMAB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008817	cob(I)yrinic acid a,c-diamide adenosyltransferase activity	IBA	molecular function
GO:0031419	cobalamin binding	IDA	molecular function
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008817	cob(I)yrinic acid a,c-diamide adenosyltransferase activity	IEA	molecular function
GO:0008817	cob(I)yrinic acid a,c-diamide adenosyltransferase activity	IDA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism

Diseases

Associated diseases	References
Methylmalonic aciduria	KEGG:H00174
Methylmalonic aciduria	KEGG:H00174
inherited metabolic disorder	PMID:12471062
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)