Type | Description |
---|---|
Definition | sarcoglycan beta |
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 |
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
|
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---|---|---|---|---|---|---|---|---|
Refseq |
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