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Rabbit Anti-INPP5E antibody
Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates,inactive towards water soluble inositol phosphates.
DISEASE:
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
SWISS:
Q9NRR6
Gene ID:
56623
Database links:
Entrez Gene: 56623 Human
SwissProt: Q9NRR6 human
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