SGCA Antibody

1. Pathogenic mutations were found in SGCA from Egyptian families with limb-girdle muscular dystrophy. PMID: 26934379
2. 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. PMID: 28081371
3. 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. PMID: 26944168
4. 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. PMID: 25279697
5. Results show that HRD1 and RFP2 contributes are required for the disposal of V247M alpha-sarcoglycan mutant. PMID: 24565866
6. 2 members of a Spanish family with muscular dystrophy had a new missense mutation c409G>A, p.Glu137Lys in exon 5 of the alpha-sarcoglycan gene, as well as a paternal c739G>A, p.Val24Met mutation inexon 6. PMID: 23703062
7. DNA analysis demonstrated homozygosity for a point mutation (574C>T) in the alpha-sarcoglycan gene. PMID: 22303798
8. E-cadherin,alpha-dystroglycan and beta-dystroglycan levels were decreased in the oesophageal primary tumour samples, despite the presence of normal levels of dystroglycan mRNA. PMID: 21884196
9. This study reported recessive founder LGMD2D for the Magdalen Islands, an archipelago settled in the XIXth century, largely by Acadian immigrants. PMID: 21856579
10. Reduced expression of laminin-binding glycans on alpha-DG may contribute to formation of highly infiltrative behavior of prostate carcinoma cells. PMID: 21656825
11. Peptide sequences in alpha-DG are substrates for protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1), demonstrated when a library of mannopeptides is generated which corresponds to sequences of the mucin-like stem region of alpha-DG. PMID: 21361872
12. Long-term, sustainable gene expression of alpha-sarcoglycan was observed following gene transfer mediated by AAV. PMID: 21031578
13. Absence of members of the dystrophin-associated glycoprotein complex constitutes a permissive environment for spontaneous development of embryonal rhabdomyosarcoma associated with mutation of p53 and mutation or altered splicing of Mdm2. PMID: 20019182
14. Two adult brothers with a mild form of LGMD2D, compound heterozygous for two missense mutations of the SGCA gene (Arg77Cys, Val247Met), presented with respiratory insufficiency while they were still ambulatory. PMID: 15298081
15. Biglycan is a ligand for two members of the sarcoglycan complex and regulates their expression at discrete developmental ages. PMID: 16883602
16. identified a negative regulatory element in the alpha-SG distal promoter including two conserved E-boxes (E1 and E2), which interact with MyoD PMID: 18078839
17. The limb-girdle muscular dystrophy patients with alpha-sarcoglycan deficient LGMD2D do not enable an accurate prediction of the genotype. PMID: 18996010

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HGNC: 10805

OMIM: 600119

KEGG: hsa:6442

STRING: 9606.ENSP00000262018

UniGene: Hs.463412