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5256 PHKA2

5256

PHKA2

phosphorylase kinase regulatory subunit alpha 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphorylase kinase regulatory subunit alpha 2

研究结论

Date Results Publications
2019-08-24 10:04:00 Study identified a novel mutation in PHKA2 (c.2972C > G, p.G991A) in patients with relatively rare phenotype of GSD IXa, including hypoglycaemia and delayed motor development. 30925902
2017-08-12 12:10:00 Clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having Glycogen storage disease (GSD) type IXa; study detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots. 28627441
2016-05-14 12:06:00 In this study we summarized the PHKA2 mutation spectrum in Korean glycogen storage disease type IX patients and found that the most common mutation type was gross deletion. 27103379
2012-11-24 11:04:00 The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis. 21857251
2012-03-17 11:45:00 We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect 21911307

名称对应

Type IDs
Synonymous GSD9A, PHK, PYK, PYKL, XLG, XLG2
Gene
UniProtKB-ID: KPB2_HUMAN
UniprotKB: P46019
UniParc: UPI000012DF4B
EMBL: AF044543, AF044564, AF044557, AF044568, AF044545, AF044563, AF044548, AF044571, AF044562, AF044565, D38616, BC014036, AF044541, AF044552, CH471074, AF044566, AF044555, AK289996, AF044546, X80497, AF044567, AF044544, Y15154, AF044572, AF044556, AF044559, AF044542, AF044549, AF044540, AF044547, AF044569, AF044554, AF044553, AL732509, AF044558, AF044551, AF044570, AL096700, X73875, AF044550, AF044560, AF044561
Ensembl: ENSG00000044446
KO: hsa:5256
Nucleutide sequences
EMBL-CDS: CAA75421.1, AAH14036.1, CAA56662.1, CAA52084.1, EAW98951.1, BAA07606.1, BAF82685.1, AAD32846.1
Ensembl_TRS: ENST00000379942
Protein sequencees
Ensembl_PRO: ENSP00000369274
RefSeq: XP_006724559.1, XP_006724561.1, XP_011543840.1, XP_011543839.1, XP_005274605.1, XP_016885069.1, NP_000283.1, XP_005274607.1
Others
UniRef100: UniRef100_P46019
UniRef90: UniRef90_P46019
UniRef50: UniRef50_P46019
UniGene: Hs.54941
CCDS: CCDS14190.1

全选

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