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11212 PLPBP

11212

PLPBP

pyridoxal phosphate binding protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition pyridoxal phosphate binding protein

研究结论

Date Results Publications
2018-07-07 10:51:00 We therefore confirm as a novel gene for vitamin-B6-dependent epilepsy and delineate a non-specific plasma vitamin B6 profile under pyridoxine treatment. 28391250
2017-11-04 12:42:00 Exploiting the universality of the Synechococcus elongatus COG0325 (PiPY) functions, it has been used in site-directed mutagenesis studies to shed light on disease causation by epilepsy-associated mutations in the human COG0325 gene 28914444
2017-05-27 10:08:00 studies suggest that is involved in intracellular homeostatic regulation of pyridoxal 5'-phosphate, supplying this cofactor to apoenzymes while minimizing any toxic side reactions 27912044

名称对应

Type IDs
Synonymous EPVB6D, PROSC
Gene
UniProtKB-ID: PLPHP_HUMAN
UniprotKB: O94903
UniParc: UPI0000131F89
EMBL: BC012334, CR533532, AL136616, AB018566
Ensembl: ENSG00000147471
KO: hsa:11212
Nucleutide sequences
EMBL-CDS: AAH12334.1, CAG38563.1, CAB66551.1, BAA36842.1
Ensembl_TRS: ENST00000328195
Protein sequencees
Ensembl_PRO: ENSP00000333551
RefSeq: NP_009129.1, NP_001336276.1, NP_001336275.1, NP_001336278.1, NP_001336277.1
Others
UniRef100: UniRef100_O94903
UniRef90: UniRef90_O94903
UniRef50: UniRef50_O94903
UniGene: Hs.304792, Hs.608177
CCDS: CCDS6096.1

全选

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研究热度

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