MMAB (metabolism of cobalamin associated B)

2014-11-01  

Identity

HGNC
MMAB
LOCATION
12q24.11
LOCUSID
326625
ALIAS
ATR,CFAP23,cblB,cob

Other Information

Locus ID:

NCBI: 326625
MIM: 607568
HGNC: 19331
Ensembl: ENSG00000139428

Variants:

dbSNP: 326625
ClinVar: 326625
TCGA: ENSG00000139428
COSMIC: MMAB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139428ENST00000420167F5H079
ENSG00000139428ENST00000503497S4R3Z1
ENSG00000139428ENST00000537236A0A087X114
ENSG00000139428ENST00000537496F5H4Z7
ENSG00000139428ENST00000540016S4R3P5
ENSG00000139428ENST00000541763F5H4Z7
ENSG00000139428ENST00000544051F5H0C1
ENSG00000139428ENST00000545712Q96EY8

Expression (GTEx)

0
5
10
15
20
25
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
Porphyrin and chlorophyll metabolismKEGGko00860
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
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
347503862021MMAB promotes negative feedback control of cholesterol homeostasis.7
347503862021MMAB promotes negative feedback control of cholesterol homeostasis.7
312031922019A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism.5
312031922019A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism.5
291976622018New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.6
291976622018New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.6
291907292017Increased MMAB level in mitochondria as a novel biomarker of hepatotoxicity induced by Efavirenz.2
291907292017Increased MMAB level in mitochondria as a novel biomarker of hepatotoxicity induced by Efavirenz.2
277162952016Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.7
277162952016Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.7
237077102013High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.4
237077102013High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.4
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.25
216047172011Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.13
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.25

Citation

Dessen P

MMAB (metabolism of cobalamin associated B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70347/favicon/js/lib/popper.js