SGCA


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Related to SGCA: DGCA

SGCA

A gene on chromosome 17q21 that encodes a component of the dystrophin-glycoprotein complex, which is thought to be restricted to striated muscle. It stabilises muscle cell membranes and links the actin cytoskeleton to the extracellular matrix.

Molecular pathology
SGCA mutations result in type 2D autosomal recessive limb-girdle muscular dystrophy.
References in periodicals archive ?
Characteristics of the Patients with Tuberous Sclerosis Number of patients (n) 36 Age (year) (median, range) 6 (0-17) Sex (M/F) 18/18 Presentation findings (n) Epilepsy 28 (78%) (5 infantile spasm) Prenatal 4 Age (year) at the time of 6 years (2 days-17 years) diagnosis (median, range) Familial history 11 (%31) Skin findings (n) Hypomelanocytic macules 30 "Shagreen" patch 10 Facial angiofibroma 19 Brain findings (n) 31 (23 patients MMR) Subependymal nodules 27 Cortical tuber 16 SGCA 7 Heart involvement (n) 11 Renal involvement (n) 28 MMR: mental motor retardation; SGCA: subependymal giant cell astrocytoma Table 3.
The registration office is operated as an eGovernment service (SachsenGlobalCA - SGCA) and is thus available to end users in accordance with the applicable regulations for the use of e-government basic components in Saxony.
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.