Calpain 3

Alternative Names

  • CAPN3
  • Calpain, Large Polypeptide L3
  • Calpain III, Large Subunit
  • CANPL3
  • Calcium-Activated Neutral Protease 3, Muscle-Specific, Large Subunit
  • CANP3
  • p94
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OMIM Number

114240

NCBI Gene ID

825

Uniprot ID

P20807

Length

53,452 bases

No. of Exons

26

No. of isoforms

5

Protein Name

Calpain-3

Molecular Mass

94254 Da

Amino Acid Count

821

Genomic Location

chr15:42,359,498-42,412,949

Gene Map Locus
15q15.1

Description

Calpains are a group of proteins that function as non-lysosomal intracellular calcium-dependent cysteine proteases. Structurally calpains are heterodimers made up of a large catalytic subunit and a smaller regulatory subunit. The CAPN3 gene encodes a muscle-specific large subunit of this protein that binds specifically with titin. Disruption of the CAPN3 enzymatic activity has been found to negatively affect muscle membrane repair and remodeling.  

Mutations in this gene have been associated with Muscular Dystrophy, Limb-Girdle, Type 2A (LGMD2A), a progressive autosomal recessive disorder characterized by proximal muscle atrophy, scapular winging, calf pseudohypertrophy, and contractures. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000070.2:c.257C>TLebanonNC_000015.10:g.42360062C>TPathogenicPathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1NG_008660.1:g.16960C>T; NM_000070.2:c.257C>T; NP_000061.1:p.Ser86Phe12143454617616
NM_000070.2:c.717delLebanonNC_000015.10:g.42389012delLikely Pathogenic, PathogenicPathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1NG_008660.1:g.45910del; NM_000070.2:c.717del; NP_000061.1:p.Phe239LeufsTer14776059672284807
NM_000070.3:c.946-1_948delLebanonchr15:.42392638-42392641Likely Pathogenic, PathogenicPathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1NG_008660.1:g.49536_49539del; NM_000070.3:c.946-1_948del766156798497002
NM_000070.3:c.956C>TLebanonchr15:42392649Likely Pathogenic, Pathogenic, Uncertain SignificancePathogenicMuscular Dystrophy, Limb-Girdle, Autosomal Recessive 1NG_008660.1:g.49547C>T; NM_000070.3:c.956C>T; NP_000061.1:p.Pro319Leu12143454717617

Other Reports

Saudi Arabia

Anazi et al. (2016) examined the effectiveness of genomic tools in diagnosing Intellectual Disability (ID) cases compared to standard clinical evaluations. In a cohort of 337 ID patients, the genomic approach of molecular karyotyping, exome sequencing and a multi-gene panel helped diagnose 58% of the cases while clinical evaluations helped diagnose only 16%. In one patient, the analysis helped uncover a homozygous mutation (c.1325G>A, p.Arg442Gln) in the CAPN3 gene, which is associated with pelvofemoral muscular dystrophy. However, the authors noted that the patient’s features of ID and severe hyperlaxity of joints were not typical presentations of this disorder.    

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