Expression of MMADHC in cancer - Summary

CANCER ATLAS

Gene description

Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Protein class

Disease related genes, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA037531	HPA037532

GENE INFORMATION
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
Cytoband	q23.2
Chromosome location (bp)	149569634 - 149587816
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000168288 (version 83.38)
Entrez gene	27249
UniProt	Q9H3L0 (UniProt - Evidence at protein level)
neXtProt	NX_Q9H3L0
Antibodypedia	MMADHC antibodies

PROTEIN BROWSER

MMADHC-001	MMADHC-004	MMADHC-006

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MMADHC-001 ENSP00000389060 ENST00000428879	Q9H3L0 [Direct mapping] Methylmalonic aciduria and homocystinuria type D protein, mitochondrial Show all	Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005829 [cytosol] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0009235 [cobalamin metabolic process] GO:0044281 [small molecule metabolic process] Show all	296 aa 32.9 kDa	No	0
MMADHC-004 ENSP00000408331 ENST00000422782	F8WEC0 [Direct mapping] Methylmalonic aciduria and homocystinuria type D protein, mitochondrial Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0009235 [cobalamin metabolic process] Show all	330 aa 36.4 kDa	No	0
MMADHC-006 ENSP00000301920 ENST00000303319	Q9H3L0 [Direct mapping] Methylmalonic aciduria and homocystinuria type D protein, mitochondrial Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0005829 [cytosol] GO:0006766 [vitamin metabolic process] GO:0006767 [water-soluble vitamin metabolic process] GO:0009235 [cobalamin metabolic process] GO:0044281 [small molecule metabolic process] Show all	296 aa 32.9 kDa	No	0