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Literature summary for 2.4.1.18 extracted from

  • Ward, T.L.; Valberg, S.J.; Adelson, D.L.; Abbey, C.A.; Binns, M.M.; Mickelson, J.R.
    Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV (2004), Mamm. Genome, 15, 570-577.
    View publication on PubMed

Application

Application Comment Organism
medicine defining the molecular basis of equine glycogen storage disease IV will allow for accurate DNA testing and the ability to prevent occurence of this disease affecting American Quarter Horses and related breeds. A C to A substitution at base 102 results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon of exon 1. All 11 affected foals are homozygous for the X34 allele, all 16 control horses are homozygous for the Y34 allele Equus caballus

Cloned(Commentary)

Cloned (Comment) Organism
complete cDNA sequence for the wild-type gene and the nonsense mutation in which a C to A substitution at base 102 results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon of exon 1 Equus caballus

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Equus caballus glycogen branching enzyme GBE1 mutation causing equine glycogen storage disease IV.A C to A substitution at base 102 results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon of exon 1. All 11 affected foals are homozygous for the X34 allele, all 16 control horses are homozygous for the Y34 allele. Poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunodetectable GBE1 protein, coupled with the present observation of abundant GBE1 mRNA in affected foals, are consistent with the nonsense mutation in the 699 amino acid GBE1 protein ?
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Organism

Organism UniProt Comment Textmining
Equus caballus Q6EAS5
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Source Tissue

Source Tissue Comment Organism Textmining

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information glycogen branching enzyme GBE1 mutation causing equine glycogen storage disease IV.A C to A substitution at base 102 results in a tyrosine (Y) to stop (X) mutation in codon 34 of exon of exon 1. All 11 affected foals are homozygous for the X34 allele, all 16 control horses are homozygous for the Y34 allele. Poorly branched glycogen, abnormal polysaccharide accumulation, lack of measurable GBE1 enzyme activity and immunodetectable GBE1 protein, coupled with the present observation of abundant GBE1 mRNA in affected foals, are consistent with the nonsense mutation in the 699 amino acid GBE1 protein Equus caballus ?
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Synonyms

Synonyms Comment Organism
GBE1 enzyme
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Equus caballus
glycogen branching enzyme GBE1
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Equus caballus