WD Repeat-Containing Protein 72

Alternative Names

  • WDR72
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OMIM Number

613214

Gene Map Locus

Description

Very little is known about the WDR72 protein. It is postulated that the protein has certain regulatory functions, especially in vesicular turnover. At least two mutations in the WDR72 gene have been shown to cause hypomaturation type of amelogenesis imperfecta.

Molecular Genetics

The WDR72 gene is located on chromosome 15. Its 19 coding exons and introns occupy a space of around 246 Kb. The mature WDR72 protein is made up of 1102 amino acids and weighs 123 kDa. WDR72 is predicted to contain seven WD40 domains. These domains are typified by minimally conserved runs of about 40 amino acids bracketed by glycine-histidine and tryptophan-aspartic acid. These domains tend to form the blades of beta propeller structures with four to eight blades, which in turn, act as docking platforms for transient protein-complex formations.

Epidemiology in the Arab World

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Other Reports

Oman

El-Sayed et al. (2009) undertook genome wide scanning in a large Pakistani family with the hypomaturation type of amelogenesis imperfecta and identified a mutation in the WDR72 gene to be causative for the condition. They further sequenced the WDR72 gene in nine other affected families, including two from Oman. One of the Omani families was found to have a point mutation in exon 17, c.2934G>A, which was predicted to result in a premature stop codon (p.W978X). A second Omani family was found to contain a deletion in the gene on exon 16 (c.2857Adel), predicted to result in a frameshift (p.S953VfsX20). Both these mutations were not identified in a set of 192 normal individuals of differing ethnic origins. No mutation could be identified in the remaining three Omani families. El-Sayed et al. (2009) conjectured that the WDR72 protein may play a role in vesicle turnover in maturation stage ameloblasts, a step necessary for maintaining their secretory functions.

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