InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MMACHC

Summary

InnateDB Gene

IDBG-97947.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MMACHC

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Synonyms

cblC

Species

Homo sapiens

Ensembl Gene

ENSG00000132763

Encoded Proteins

IDBP-226715

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

IDBP-813691

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:45500053-45513382

Strand

Forward strand

Band

p34.1

Transcripts

ENST00000401061	ENSP00000383840
ENST00000477188
ENST00000616135	ENSP00000478859

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0031419	cobalamin binding

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0009235	cobalamin metabolic process
GO:0009236	cobalamin biosynthetic process
GO:0044281	small molecule metabolic process