MMADHC (metabolism of cobalamin associated D)

2007-04-01 Affiliation

Identity

HGNC

MMADHC

LOCATION

2q23.2

LOCUSID

27249

ALIAS

C2orf25,CL25022,cblD

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 27249
MIM: 611935
HGNC: 25221
Ensembl: ENSG00000168288

Variants:

dbSNP: 27249
ClinVar: 27249
TCGA: ENSG00000168288
COSMIC: MMADHC

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000168288	ENST00000303319	Q9H3L0
ENSG00000168288	ENST00000422782	F8WEC0
ENSG00000168288	ENST00000428879	Q9H3L0

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of metabolism	REACTOME	R-HSA-5668914
Defects in vitamin and cofactor metabolism	REACTOME	R-HSA-3296482
Defects in cobalamin (B12) metabolism	REACTOME	R-HSA-3296469
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD	REACTOME	R-HSA-3359473
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolism	REACTOME	R-HSA-196741

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18385497	2008	Gene identification for the cblD defect of vitamin B12 metabolism.	39
22156578	2012	Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.	13
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
21071249	2011	Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism.	9
23270877	2013	Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.	9
22832074	2012	Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism.	7
24722857	2014	Characterization of functional domains of the cblD (MMADHC) gene product.	5
26364851	2015	Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.	4
26483544	2015	Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.	3

Citation

Dessen P

MMADHC (metabolism of cobalamin associated D)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47505/mmadhc