InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MMADHC

Summary

InnateDB Protein

IDBP-386404.4

Last Modified

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

Gene Symbol

MMADHC

Protein Name

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000389060

InnateDB Gene

IDBG-71964 (MMADHC)

Protein Structure

UniProt Annotation

Function

Involved in cobalamin metabolism. {ECO:0000269PubMed:18385497}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:23270877}. Mitochondrion {ECO:0000269PubMed:23270877}.

Disease Associations

Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). {ECO:0000269PubMed:18385497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed at high levels. {ECO:0000269PubMed:18385497}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

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