Tissue expression of MMADHC - Summary - The Human Protein Atlas

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MMADHC

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in most tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. Pending external verification.
Reliability score	Supported based on 2 antibodies. HPA037531 , HPA037532
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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

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The Project

The Human Protein Atlas

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