WDR72 gene

WD repeat domain 72

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

From UniProt:

Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Amelogenesis imperfecta, hypomaturation type, IIA3

From UniProt:

Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3): A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. [MIM:613211]

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3

Molecular Location: base pairs 53,513,741 to 53,762,878 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q21.3, which is the long (q) arm of chromosome 15 at position 21.3