Target intelligence / Profile preview

WD repeat-containing protein 72 (WDR72)

Target
WDR72
Molecular classification
WD40-repeat domain superfamily protein, Vesicle coat complex-related protein, Membrane-associating protein
01

Overview

WD repeat-containing protein 72 is a member of the WD40-repeat superfamily, typically comprising two β-propeller domains followed by an α-solenoid tail. These domains are involved in forming protein complexes for membrane deformation, characteristic of vesicle coat proteins. WDR72 localizes to the cytosol and the Golgi apparatus, dependent on its C-terminal CAAX motif, and is crucial for maturation of enamel-producing cells (ameloblasts)[1][3]. Mutations in WDR72 disrupt vesicular transport during amelogenesis, resulting in hypomaturation of tooth enamel and related dental abnormalities. The protein shares homology and some functional similarity to WDR7 (Rabconnectin-3β), which regulates vesicle mobilization and calcium-dependent exocytosis[3].

Other names
WD repeat domain 72WDR72FLJ38736AI2A3
02

Biological functions

Vesicle trafficking (membrane transport)Protein–protein interactionsGolgi apparatus associationInvolvement in calcium vesicle turnover (predicted by homology)Tooth enamel maturation (amelogenesis)
03

Disease associations

Amelogenesis imperfecta, hypomaturation typeTooth enamel defects and delayed tooth development
04

Biomarkers

Mutations in WDR72 as genetic markers for autosomal-recessive hypomaturation amelogenesis imperfecta

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