InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MMACHC

Summary

InnateDB Protein

IDBP-226715.6

Last Modified

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

Gene Symbol

MMACHC

Protein Name

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Synonyms

cblC;

Species

Homo sapiens

Ensembl Protein

ENSP00000383840

InnateDB Gene

IDBG-97947 (MMACHC)

Protein Structure

UniProt Annotation

Function

May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12).

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:23270877}.

Disease Associations

Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. {ECO:0000269PubMed:16311595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. {ECO:0000269PubMed:16311595}.

Comments

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