Sarcoglycan, Alpha

Alternative Names

  • SGCA
  • Adhalin
  • ADL
  • Dystroglycan 2
  • DAG2
  • Dystrophin-Associated Glycoprotein, 50-KD
  • 50-DAG
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OMIM Number

600119

NCBI Gene ID

6442

Uniprot ID

Q16586

Length

9,924 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Alpha-sarcoglycan

Molecular Mass

42875 Da

Amino Acid Count

387

Genomic Location

chr17:50,166,005-50,175,928

Gene Map Locus
17q21.33

Description

Sarcoglycans are a family of membrane glycoproteins that associate to form the sarcoglycan protein complex, which is responsible for connecting the muscle fiber cytoskeleton to the extracellular matrix, thereby affording support and stability to the muscles. Alpha sarcoglycan is one of the proteins in this complex. In fact, alpha sarcoglycan is the protein that is most loosely associated with the other glycoproteins in the complex. This sarcoglycan complex itself, interacts with other proteins like dystrophins, dystrophin associated glycoproteins, and dystroglycans to form the dystrophin-glycoprotein complex, which in turn functions to bind actin to the extracellular matrix of myocytes. Expression studies indicate that the gene expresses itself mostly in the skeletal muscles, diaphragm, and cardiac muscles, while small amounts are also expressed in the bladder and small intestine.

Mutations in the SGCA gene are responsible for LGMDR3 (autosomal recessive limb-girdle muscular dystrophy-3). In patients with LGMDR3, alpha sarcoglycan is absent from the myocyte membranes, thereby explaining the physiology of the disease. In fact, the name adhalin for the protein product of the gene comes from the Arabic word for muscle (Adhal), which is severely affected in the disease condition.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000023.4:c.292C>TUnited Arab EmiratesNC_000017.11:g.50167716C>TLikely Pathogenic, PathogenicLikely PathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 3NG_008889.1:g.6712C>T; NM_000023.4:c.292C>T; NP_000014.1:p.Arg98Cys138945081284708

Other Reports

Saudi Arabia

Salih et al. (1996) described the clinical, biochemical and histochemical features of 14 patients (nine females and five males) with severe childhood autosomal recessive muscular dystrophy (SCARMD) seen at a tertiary hospital in Riyadh from 1982 to 1993. Onset was at 3 to 9 (median 3) years and four of five children aged > 12 years lost ambulation. Five of the eight pairs of parents were closely consanguineous. The mean creatine kinase was 20 times the upper normal limit. Histochemistry of muscle showed dystrophic features in all cases, and dystrophin was positive in all cases examined (N = 6). Three patients (two girls and a boy) were deficient in adhalin, the 50-kDa dystorphin-associated glycoprotein. Salih et al. (1996) indicated that the clinical features conformed to previous observations from Sudan, North Africa and Qatar in the Arabian Peninsula. They also added that the disease is common in Saudi Arabia and seems to be more prevalent than Duchenne muscular dystrophy.

Tunisia

Fendri et al. (2006) described two Tunisian siblings, who were suspected to be affected with limb girdle muscular dystrophy. One of these patient's second cousins was diagnosed with LGMD2C, with homozygous mutations in the SGCG gene. However, different and heterozygous haplotypes were revealed for these patients upon linkage analysis with markers spanning the SGCG locus. On the other hand, both were found to be homozygous for the LGMD2D locus. Upon mutation screening of the SCGA gene, a homozygous 157G>A (Ala53Thr) mutation was identified in both patients. One of his healthy siblings was also found to be heterozygous for this mutation. Two other healthy siblings of these patients showed absence of this mutation, although their mother was heterozygous for the mutation.

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