MMADHC

GENERAL INFORMATION

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Gene name

MMADHC

Gene description

Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

Protein class

Disease related genes
Mitochondrial proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA037531 , HPA037532
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q23.2

Chromosome location (bp)

149569634 - 149587816

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000168288 (version 78.38)

Entrez gene

27249

UniProt

Q9H3L0 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H3L0

Antibodypedia

MMADHC antibodies


PROTEIN BROWSER

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ENST00000303319
 
ENST00000422782
 
ENST00000428879
 
 
 
 


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
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Show » 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 » Show » 296 32.9 No 0