| Gene Symbol |
SGCB
|
| Entrez Gene |
6443
|
| Alt Symbol |
A3b, LGMD2E, SGC
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
| Other Description |
43 kDa dystrophin-associated glycoprotein|43DAG|beta-SG|beta-sarcoglycan|beta-sarcoglycan(43kD dystrophin-associated glycoprotein)|limb girdle muscular dystrophy 2E (non-linked families)
|
| Swissprots |
Q16585 B7Z635 O00661
|
| Accessions |
AAB46956 CAA70920 EAX05429 EAX05430 Q16585 AK094731 AK289892 BAF82581 AK299765 BAH13121 BC020709 AAH20709 BC048972 BT019433 AAV38240 CA449352 CN483961 CR456810 CAG33091 DQ893140 ABM84066 DQ896425 ABM87424 EU176433 ABW03884 U29586 AAB41291 U31116 AAA87034 XM_006714049 XP_006714112 XM_011534403 XP_011532705 XM_011534404 XP_011532706 NM_000232 NP_000223
|
| 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 II membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
|
| Tissue Specificity |
Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta, pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver.
|
| Top Pathways |
Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|