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5255 PHKA1

5255

PHKA1

phosphorylase kinase regulatory subunit alpha 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphorylase kinase regulatory subunit alpha 1

研究结论

Date Results Publications
2012-03-10 10:25:00 muscle PHKA deficiency may present as an almost asymptomatic condition, despite a mild impairment of muscle 22238410
2010-01-21 00:00:00 alpha- and beta-subunits possess amino-terminal glucoamylase-like domains and suggests that they might possess a previously overlooked amylase activity 12876330
2010-01-21 00:00:00 X-linked PHK deficiency causes a mild metabolic myopathy with blunted muscle glycogen breakdown and impaired lactate production during dynamic exercise, which impairs oxidative capacity only marginally 18401027

名称对应

Type IDs
Synonymous PHKA
Gene
UniProtKB-ID: KPB1_HUMAN
UniprotKB: P46020
UniParc: UPI000013D340, UPI0000212364, UPI000189A78B
EMBL: X73874, BX295542, BC104944, BC143501, BX295541, BC143499
Ensembl: ENSG00000067177
KO: hsa:5255
Nucleutide sequences
EMBL-CDS: CAA52083.1, AAI43500.1, AAI43502.1, AAI04945.1
Ensembl_TRS: ENST00000373542, ENST00000339490, ENST00000541944
Protein sequencees
Ensembl_PRO: ENSP00000441251, ENSP00000342469, ENSP00000362643
RefSeq: NP_002628.2, XP_006724724.1, NP_001116142.1, NP_001165907.1
Others
UniRef100: UniRef100_P46020
UniRef90: UniRef90_P46020
UniRef50: UniRef50_P46020
UniGene: Hs.201379
CCDS: CCDS55453.1, CCDS14421.1, CCDS48137.1

全选

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