MMADHC

GENE INFORMATION

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Gene name

MMADHC (HGNC Symbol)

Synonyms

C2orf25, cblD, CL25022

Description

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (HGNC Symbol)

Entrez gene summary

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

Chromosome

2 (Chromosome progress)

Cytoband

q23.2

Chromosome location (bp)

150426148 - 150444330

Ensembl

ENSG00000168288 (version 73.37)

Entrez gene

27249

UniProt

Q9H3L0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H3L0

Antibodypedia

MMADHC antibodies
 

PROTEIN VIEW

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MMADHC-001
 
MMADHC-004
 
MMADHC-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MMADHC-001 ENSP00000389060
ENST00000428879
Q9H3L0
Show all »
Show » 296 32.9 No 0
MMADHC-004 ENSP00000408331
ENST00000422782
F8WEC0
Show all »
Show » Show » 330 36.4 No 0
MMADHC-006 ENSP00000301920
ENST00000303319
Q9H3L0
Show all »
Show » 296 32.9 No 0