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Literature summary for 3.1.3.56 extracted from

  • Wiessner, M.; Roos, A.; Munn, C.J.; Viswanathan, R.; Whyte, T.; Cox, D.; Schoser, B.; Sewry, C.; Roper, H.; Phadke, R.; Marini Bettolo, C.; Barresi, R.; Charlton, R.; Boennemann, C.G.; Abath Neto, O.; Reed, U.C.; Zanoteli, E.; Araujo Martins Moreno, C.; Ertl-Wagner, B.; Stucka, R.; De Goede, C.; Borges de Silva, T.
    Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment (2017), Am. J. Hum. Genet., 100, 523-536 .
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine in individuals exhibiting congenital muscular dystrophy, early-onset cataracts, and mild intellectual disability but normal cranial magnetic resonance imaging, bi-allelic mutations in isoform INPP5K are found. Mutations impair phosphatase activity toward phosphatidylinositol (4,5)-bisphosphate or alter the subcellular localization of INPP5K Homo sapiens

Organism

Organism UniProt Comment Textmining
Danio rerio A0A2R8QKI3
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Homo sapiens Q9BT40
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Source Tissue

Source Tissue Comment Organism Textmining
skeletal muscle
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 Danio rerio
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Synonyms

Synonyms Comment Organism
inositol polyphosphate-5-phosphatase Kb
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 Danio rerio
INPP5K
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 Homo sapiens
INPP5K
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 Danio rerio

General Information

General Information Comment Organism
physiological function downregulation of INPP5K disrupts muscle fiber morphology and results in abnormal eye development Danio rerio