PPP1R35
Description
The PPP1R35 (protein phosphatase 1 regulatory subunit 35) is a protein-coding gene located on chromosome 7.
PPP1R35 is involved in centriole duplication by promoting the recruitment of microtubule-binding elongation machinery through its interaction with RTTN, leading to centriole to centrosome conversion. This protein may also play a role in primary cilia assembly. These functions are supported by experimental evidence from UniProtKB:Q9D8C8, PubMed:30168418, and PubMed:30230954.
PPP1R35 is also known as C7orf47.
Associated Diseases
- hereditary hyperferritinemia with congenital cataracts
- juvenile cataract-microcornea-renal glucosuria syndrome
- isolated ectopia lentis
- granular corneal dystrophy type I
- hyperinsulinism due to INSR deficiency
- early-onset non-syndromic cataract
- cataract 5 multiple types
- exercise-induced hyperinsulinism
- glycogen storage disorder due to hepatic glycogen synthase deficiency
