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6443 SGCB

6443

SGCB

sarcoglycan beta

protein-coding

Homo sapiens

基因描述

Type Description
Definition sarcoglycan beta

研究结论

Date Results Publications
2018-05-12 10:31:00 This study demonstrated that LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. 28687063
2015-07-25 11:13:00 Clinical severity of limb-girdle muscular dystrophy type 2Emay be predicted by SGCB gene mutation and sarcoglycan protein expression. 25862795
2010-01-21 00:00:00 beta-sarcoglycan and may have a role in limb-girdle muscular dystrophy type 2E 16088906
2010-01-21 00:00:00 Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations 12060343
2010-01-21 00:00:00 The limb-girdle muscular dystrophy patients with beta-sarcoglycan deficient LGMD2E do not enable an accurate prediction of the genotype. 18996010

名称对应

Type IDs
Synonymous A3b, LGMD2E, LGMDR4, SGC
Gene
UniProtKB-ID: SGCB_HUMAN, Q5U0N0_HUMAN
UniprotKB: Q16585, Q5U0N0
UniParc: UPI000013590B, UPI000020B880
EMBL: U63801, U63796, AK289892, U63797, CH471057, U29586, U63798, BC020709, U31116, BT019433, U63800, AC093858, AK299765, Y09781
Ensembl: ENSG00000163069
KO: hsa:6443
Nucleutide sequences
EMBL-CDS: BAH13121.1, AAB46956.1, CAA70920.1, AAH20709.1, AAB41291.1, AAA87034.1, EAX05430.1, AAV38240.1, EAX05429.1, BAF82581.1
Gene_ORFName: hCG_20638
Ensembl_TRS: ENST00000381431
Protein sequencees
Ensembl_PRO: ENSP00000370839
RefSeq: NP_000223.1
Others
UniRef100: UniRef100_Q16585
UniRef90: UniRef90_Q16585
UniRef50: UniRef50_Q16585
UniGene: Hs.438953
CCDS: CCDS3488.1

全选

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