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326625 MMAB

326625

MMAB

metabolism of cobalamin associated B

protein-coding

Homo sapiens

基因描述

Type Description
Definition metabolism of cobalamin associated B

研究结论

Date Results Publications
2020-11-21 13:11:00 A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B12 status (cB12) and connects B12 status with utilization of mitochondrial substrates and energy metabolism. 31203192
2018-05-26 10:51:00 analysis of how molecular chaperones interact with ATR in methylmalonic aciduria cblB type 29197662
2017-12-30 10:50:00 MMAB might be a target and potential biomarker of hepatotoxicity in EFV-induced liver toxicity 29190729
2017-04-08 11:32:00 These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese. 27716295
2014-03-22 11:17:00 MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. 23707710

名称对应

Type IDs
Synonymous ATR, CFAP23, cblB, cob
Gene
UniProtKB-ID: MMAB_HUMAN
UniprotKB: Q96EY8
UniParc: UPI0000073CBF
EMBL: AF550401, AF550398, AF550396, AF550402, FJ515859, BC005054, AF550400, AF550403, AF550404, AF550397, BC011831, AF550399
Ensembl: ENSG00000139428
KO: hsa:326625
Nucleutide sequences
EMBL-CDS: AAH11831.1, AAH05054.2, ACS13749.1, AAN85091.1
Ensembl_TRS: ENST00000545712
Protein sequencees
Ensembl_PRO: ENSP00000445920
RefSeq: XP_011536570.1, XP_011536569.1, XP_024304729.1, XP_011536571.1, NP_443077.1
Others
UniRef100: UniRef100_Q96EY8
UniRef90: UniRef90_Q96EY8
UniRef50: UniRef50_Q96EY8
UniGene: Hs.12106
CCDS: CCDS9131.1

全选

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研究热度

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