QuickView for LGMD2D (gene)

Gene Symbol:

SGCA Homo sapiens

Full name:

sarcoglycan alpha

Synonyms:

50DAG, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin, alpha-sarcoglycan, 50 kDa dystrophin-associated glycoprotein, 50kD DAG, alpha-SG, dystroglycan-2, limb girdle muscular dystrophy 2D, sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

Genomic Location:

Chr 17: 45598390-45608288

Description:

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle mus...

View Full Description

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TFIIA_Q6 ,  OCT1_01 ,  YATGNWAAT_OCT_C ,  YCATTAA_UNKNOWN

Cytogenetic Map:

17q21.33

search → result