Cell atlas - MMADHC - The Human Protein Atlas

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MMADHC

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	MMADHC
Gene description	Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.