| Gene Symbol |
SGCA
|
| Entrez Gene |
6442
|
| Alt Symbol |
50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
| Other Description |
50 kDa dystrophin-associated glycoprotein|50DAG|50kD DAG|alpha-SG|alpha-sarcoglycan|dystroglycan-2
|
| Swissprots |
Q13710 Q13712 A8K3K7 A6NEB8 Q16586
|
| Accessions |
CCQ42962 EAW94634 EAW94635 Q16586 AK290622 BAF83311 AK293614 BAH11547 AK300710 BAH13330 BC025702 AAH25702 DQ893777 ABM84703 F25770 L34355 AAA35510 L35853 AAA50461 L46810 AAC37583 U08895 AAA81637 XM_011525120 XP_011523422 XM_011525121 XP_011523423 XM_011525122 XP_011523424 XM_011525123 XP_011523425 XM_011525124 XP_011523426 XR_934517 NM_000023 NP_000014 NM_001135697 NP_001129169
|
| Function |
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
|
| Subcellular Location |
Cell membrane, sarcolemma {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
|
| Tissue Specificity |
Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.
|
| Top Pathways |
Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|
![Western Blot: alpha Sarcoglycan Overexpression Lysate (Adult Normal) [NBL1-15902] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for alpha Sarcoglycan.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/868_alpha%2520Sarcoglycan%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-15902-img0002.jpg)