Gene Symbol |
SGCD
|
Entrez Gene |
6444
|
Alt Symbol |
35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
Other Description |
35 kDa dystrophin-associated glycoprotein|delta-SG|delta-sarcoglycan|dystrophin associated glycoprotein, delta sarcoglycan|placental delta sarcoglycan
|
Swissprots |
Q99644 Q53XA5 Q92629 A8K9S9
|
Accessions |
EAW61618 EAW61619 Q92629 AA029970 AF010236 AI139498 AK129889 AK130068 AK292794 BAF85483 BC008431 BC020740 AAH20740 BQ434817 BQ446019 BX501169 BX537948 CAD97916 BX642431 DA561069 DQ891750 ABM82676 DQ894929 ABM85855 U58331 AAC50921 X95191 CAA64490 XM_005265966 XP_005266023 XM_005265967 XP_005266024 XM_006714911 XP_006714974 XM_011534621 XP_011532923 NM_000337 NP_000328 NM_001128209 NP_001121681 NM_172244 NP_758447
|
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; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.
|
Tissue Specificity |
Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
|
Top Pathways |
Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy
|