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- Table of Contents
Facts about Alpha-sarcoglycan.
Human | |
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Gene Name: | SGCA |
Uniprot: | Q16586 |
Entrez: | 6442 |
Belongs to: |
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sarcoglycan alpha/epsilon family |
50-DAG; Adhalin; ADL; alphaSarcoglycan; alpha-Sarcoglycan; DAG2; DMDA2; DMDA250kD DAG; Dystroglycan-2; LGMD2D; LGMD2Dalpha (50kD dystrophin-associated glycoprotein); sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein); SCARMD1; SGCA
Mass (kDA):
42.875 kDA
Human | |
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Location: | 17q21.33 |
Sequence: | 17; NC_000017.11 (50165517..50175928) |
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.
Cell membrane, sarcolemma; Single-pass type I membrane protein. Cytoplasm, cytoskeleton.
PMID: 8069911 by Roberds S.L., et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
PMID: 7937874 by McNally E., et al. Human adhalin is alternatively spliced and the gene is on chromosome 17q21.