MMACHC (metabolism of cobalamin associated C)

2009-05-01 Affiliation

Identity

HGNC

MMACHC

LOCATION

1p34.1

LOCUSID

25974

ALIAS

cblC

FUSION GENES

Show Gene Fusions

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: 25974
MIM: 609831
HGNC: 24525
Ensembl: ENSG00000132763

Variants:

dbSNP: 25974
ClinVar: 25974
TCGA: ENSG00000132763
COSMIC: MMACHC

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000132763	ENST00000401061	Q9Y4U1
ENSG00000132763	ENST00000616135	A0A0C4DGU2

Expression (GTEx)

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
Vitamin digestion and absorption	KEGG	ko04977
Vitamin digestion and absorption	KEGG	hsa04977
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 MMACHC causes methylmalonic aciduria and homocystinuria type cblC	REACTOME	R-HSA-3359474
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
16311595	2006	Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.	82
18779575	2008	Decyanation of vitamin B12 by a trafficking chaperone.	51
19370762	2009	Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.	49
19370762	2009	Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.	49
19447654	2009	Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product.	40
19801555	2009	A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins.	32
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
19760748	2009	Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).	26
18164228	2008	Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.	22
20631720	2010	Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.	19

Citation

Dessen P

MMACHC (metabolism of cobalamin associated C)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50922/mmachc-(metabolism-of-cobalamin-associated-c)