Gene Symbol | WDR72 |
Entrez Gene ID | 256764 |
Full Name | WD repeat domain 72 |
Synonyms | AI2A3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Amelogenesis imperfecta, type IIA3, 613211 (3) |