Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
Abstract
FBXL3 (F-Box and Leucine Rich Repeat Protein 3) encodes a protein that contains an F-box and several tandem leucine-rich repeats (LRR) domains. FBXL3 is part of the SCF (Skp1-Cullin-F box protein) ubiquitin ligase complex that binds and leads to phosphorylation-dependent degradation of the central clock protein cryptochromes (CRY1 and CRY2) by the proteasome and its absence causes circadian phenotypes in mice and behavioral problems. No...
Paper Details
Title
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature
Published Date
Nov 26, 2018
Journal
Volume
28
Issue
6
Pages
972 - 979
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