Type | Description |
---|---|
Definition | sarcoglycan alpha |
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 |
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
|
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