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646486 FABP12

646486

FABP12

fatty acid binding protein 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition fatty acid binding protein 12

研究结论

Date Results Publications
2019-08-31 10:54:00 Study in a large, five-generation Han Chinese family with several patients presenting with Marie Unna hereditary hypotrichosis (MUHH) and multiple familial trichoepithelioma (MFT) revealed that the c.1A>G mutation in HR (U2HR) was present in all MUHH patients. No pathogenic variants were found in EPS8L3 or CYLD in any family members but FABP12 (rs536105592 G>A) was identified in the patients with both MUHH and MFT. 30809827
2010-01-21 00:00:00 FABP12 arose as the result of tandem gene duplication, a mechanism that may have been instrumental to the expansion of the FABP family. 18786628

名称对应

Type IDs
Gene
UniProtKB-ID: FBP12_HUMAN
UniprotKB: A6NFH5
UniParc: UPI00001B2E3D
EMBL: CH471068, EU733650, BC146981, AX785174, AX785170, BC146973, AC023644
Ensembl: ENSG00000197416
KO: hsa:646486
Nucleutide sequences
EMBL-CDS: AAI46982.1, ACI03640.1, EAW87093.1, AAI46974.1
Ensembl_TRS: ENST00000360464
Protein sequencees
Ensembl_PRO: ENSP00000353650
RefSeq: XP_011515879.1, XP_006716528.1, NP_001098751.1
Others
UniRef100: UniRef100_A6NFH5
UniRef90: UniRef90_A6NFH5
UniRef50: UniRef50_A6NFH5
UniGene: Hs.586370
CCDS: CCDS47882.1

全选

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研究热度

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