MMACHC (metabolism of cobalamin associated C)

2009-05-01  

Identity

HGNC
MMACHC
LOCATION
1p34.1
LOCUSID
25974
ALIAS
cblC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25974
MIM: 609831
HGNC: 24525
Ensembl: ENSG00000132763

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132763ENST00000401061Q9Y4U1
ENSG00000132763ENST00000616135A0A0C4DGU2

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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

PathwaySourceExternal ID
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in cobalamin (B12) metabolismREACTOMER-HSA-3296469
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblCREACTOMER-HSA-3359474
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblDREACTOMER-HSA-3359473
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Cobalamin (Cbl, vitamin B12) transport and metabolismREACTOMER-HSA-196741

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383555262024Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.0
383873062024The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.0
383555262024Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.0
383873062024The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.0
376439532023[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].0
376439532023[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].0
353376232022Intracellular processing of vitamin B(12) by MMACHC (CblC).5
354400182022Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12).5
356182062022Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.1
357737562022[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].1
353376232022Intracellular processing of vitamin B(12) by MMACHC (CblC).5
354400182022Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12).5
356182062022Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.1
357737562022[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].1
331907932021Thiolatocobalamins repair the activity of pathogenic variants of the human cobalamin processing enzyme CblC.3

Citation

Dessen P

MMACHC (metabolism of cobalamin associated C)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50922/teaching-explorer/meetings/haematological-explorer/