Identity
HGNC
LOCATION
17q21.33
LOCUSID
ALIAS
50DAG,ADL,DAG2,DMDA2,LGMD2D,LGMDR3,SCARMD1,adhalin
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6442
MIM: 600119
HGNC: 10805
Ensembl: ENSG00000108823
Variants:
dbSNP: 6442
ClinVar: 6442
TCGA: ENSG00000108823
COSMIC: SGCA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 39060875 | 2024 | Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients. | 0 |
| 39060875 | 2024 | Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients. | 0 |
| 33848270 | 2021 | Base editing repairs an SGCA mutation in human primary muscle stem cells. | 11 |
| 33848270 | 2021 | Base editing repairs an SGCA mutation in human primary muscle stem cells. | 11 |
| 30218921 | 2018 | Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis. | 4 |
| 30218921 | 2018 | Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis. | 4 |
| 28081371 | 2017 | GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. | 16 |
| 28081371 | 2017 | GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. | 16 |
| 26934379 | 2016 | Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. | 7 |
| 26944168 | 2016 | Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. | 5 |
| 26934379 | 2016 | Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. | 7 |
| 26944168 | 2016 | Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. | 5 |
| 24565866 | 2014 | Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. | 19 |
| 25279697 | 2014 | B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. | 50 |
| 24565866 | 2014 | Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D. | 19 |
Citation
Dessen P
SGCA (sarcoglycan alpha)
Atlas Genet Cytogenet Oncol Haematol. 2010-04-01
Online version: http://atlasgeneticsoncology.org/gene/51446/sgca
