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 .

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	UniProt	Comment	Textmining
Danio rerio	A0A2R8QKI3	-	-
Homo sapiens	Q9BT40	-	-

Source Tissue	Comment	Organism	Textmining
skeletal muscle	-	Danio rerio	-

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

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

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Release 2023.1 (January 2023)