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Literature summary for 3.4.22.54 extracted from

  • Dincer, P.; Leturcq, F.; Richard, I.; et.al.
    A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey (1997), Ann. Neurol., 42, 222-229.
    View publication on PubMed
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Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens autosomal recessive limb girdle muscular dystrophy is a clinically and genetically heterogenous group of diseases involving at least six different loci. Five genes have already been identified: calpain-3 at LGMD2A (15q15), and four members of the sarcoglycan (SG) complex, alpha-SG at LGMD2D (17q21), beta-SG at LGMD2E (4q12), gamma-SG at LGMD2C (13q12), and delta-SG at LGMD2F (5q33-q34). The gene product at LGMD2B (2p13-p16) is still unknown and at least one other gene is still unmapped ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens P20807
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Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
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 Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information autosomal recessive limb girdle muscular dystrophy is a clinically and genetically heterogenous group of diseases involving at least six different loci. Five genes have already been identified: calpain-3 at LGMD2A (15q15), and four members of the sarcoglycan (SG) complex, alpha-SG at LGMD2D (17q21), beta-SG at LGMD2E (4q12), gamma-SG at LGMD2C (13q12), and delta-SG at LGMD2F (5q33-q34). The gene product at LGMD2B (2p13-p16) is still unknown and at least one other gene is still unmapped Homo sapiens ?
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