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Literature summary for 2.7.1.94 extracted from

  • Aldahmesh, M.A.; Khan, A.O.; Mohamed, J.Y.; Alghamdi, M.H.; Alkuraya, F.S.
    Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus (2012), Hum. Mutat., 33, 960-962.
    View publication on PubMed

Application

Application Comment Organism
medicine identification of a novel autosomal recessive cataract locus on 7q33-q36.1 in a multiplex consanguineous family with isolated congenital cataractl. Mutation is a splice-site mutation in AGK, encoding acylglycerol kinase, which leads to aberrant splicing and predicted premature truncation Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information identification of a novel autosomal recessive cataract locus on 7q33-q36.1 in a multiplex consanguineous family with isolated congenital cataractl. Mutation is a splice-site mutation in AGK, encoding acylglycerol kinase, which leads to aberrant splicing and predicted premature truncation Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q53H12
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