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7504 XK

7504

XK

X-linked Kx blood group

protein-coding

Homo sapiens

基因描述

Type Description
Definition X-linked Kx blood group

研究结论

Date Results Publications
2015-11-14 11:00:00 the expression of KX is critical to normal morphology, and null mutations are associated with the McLeod neuroacanthocytosis syndrome. 26308465
2015-04-18 12:02:00 The XK gene was not linked to hypermutability in red cells from patients with paroxysmal nocturnal hemoglobinuria. 24816235
2015-01-24 10:06:00 study reports the clinical findings and a novel nonsense hemizygous mutation, c.154C>T (p.Gln52X) at exon 1 of XK gene in a Taiwanese family with McLeod syndrome 24635891
2012-04-07 10:57:00 Novel XK protein mutations are reported in two patients who exhibit typical clinical characteristics of McLeod syndrome. 21463873
2011-07-30 11:11:00 This study identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK. 21145924

名称对应

Type IDs
Synonymous KX, NA, NAC, X1k, XKR1
Gene
UniProtKB-ID: XK_HUMAN
UniprotKB: P51811
UniParc: UPI0000139000
EMBL: DQ062746, BC036019, AY534238, Z32684
Ensembl: ENSG00000047597
KO: hsa:7504
Nucleutide sequences
EMBL-CDS: CAA83632.2, AAY43132.1, AAT07087.1, AAH36019.1
Ensembl_TRS: ENST00000378616
Protein sequencees
Ensembl_PRO: ENSP00000367879
RefSeq: XP_011542280.1, NP_066569.1
Others
UniRef100: UniRef100_P51811
UniRef90: UniRef90_P51811
UniRef50: UniRef50_P51811
UniGene: Hs.78919
CCDS: CCDS14241.1

全选

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