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6442 SGCA

6442

SGCA

sarcoglycan alpha

protein-coding

Homo sapiens

基因描述

Type Description
Definition sarcoglycan alpha

研究结论

Date Results Publications
2019-07-20 12:43:00 This study showed three Sarcoglycanopathies caused by mutations in SGCA genes. 30218921
2017-07-08 10:13:00 Pathogenic mutations were found in SGCA from Egyptian families with limb-girdle muscular dystrophy. 26934379
2017-06-03 10:09:00 IN TMD patients, a locus near the sarcoglycan alpha ( SGCA), rs4794106, was suggestive in the discovery analysis ( P = 2.6 x 10(6)) and replicated (i.e., 1-tailed P = 0.016) in the Brazilian cohort. 28081371
2016-12-17 11:48:00 The results suggest that the carrier rate of c.101G>T in SGCA may be high in Taiwan, especially in the aboriginal population regardless of the tribes. 26944168
2016-04-16 10:16:00 B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. 25279697

名称对应

Type IDs
Synonymous 50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin
Gene
UniProtKB-ID: SGCA_HUMAN, A0A0S2Z4Q1_HUMAN, A0A0S2Z4P8_HUMAN
UniprotKB: Q16586, A0A0S2Z4Q1, A0A0S2Z4P8
UniParc: UPI000002B381, UPI0000135907
EMBL: L34355, L35853, BC025702, U08895, AK290622, CH471109, KU178332, AC015909, KU178331, L46810
Ensembl: ENSG00000108823
KO: hsa:6442
Nucleutide sequences
EMBL-CDS: AAA50461.1, BAF83311.1, AAH25702.1, EAW94635.1, AAC37583.1, AAA35510.1, AAA81637.1, ALQ33789.1, ALQ33790.1, EAW94634.1
Gene_ORFName: hCG_29610
Ensembl_TRS: ENST00000344627, ENST00000262018
Protein sequencees
Ensembl_PRO: ENSP00000262018, ENSP00000345522
RefSeq: NP_000014.1, XP_011523422.2, XP_011523423.2, XP_011523424.2, XP_024306641.1, NP_001129169.1, XP_011523425.2, XP_011523426.1
Others
UniRef100: UniRef100_Q16586-2, UniRef100_Q16586
UniRef90: UniRef90_Q16586, UniRef90_Q16586-2
UniRef50: UniRef50_Q16586, UniRef50_Q16586-2
UniGene: Hs.463412
CCDS: CCDS45729.1, CCDS32679.1

全选

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