MMAB (metabolism of cobalamin associated B)

2014-11-01  

Identity

HGNC
LOCATION
12q24.11
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
181930432008Newly identified loci that influence lipid concentrations and risk of coronary artery disease.690
175976482007Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).45
194875392009Large scale replication analysis of loci associated with lipid concentrations in a Japanese population.35
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.26
153476552004Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase.25
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.20
201597752010Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
201601932010Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.16
179574932008Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.13

Citation

Dessen P

MMAB (metabolism of cobalamin associated B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70347/mmab