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]
Accession: | NM_001277176 |
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基因名称: | WDR72 |
基因别名: | AI2A3 |
基因描述: | Homo sapiens WD repeat domain 72 (WDR72), transcript variant 2, mRNA. |
种属: | Human |
CDS区长度: | 267 (查看编码区序列) |
翻译后氨基酸长度: | 88 (查看氨基酸序列) |
Transcript Variant: | This variant (2) contains multiple differences, compared to variant 1, including the lack of multiple 5' coding exons. It represents use of an internal promoter. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a. |
人 WDR72 (NM_182758) cDNA克隆 | transcript variant 1 |
人 WDR72 (NM_001277176) cDNA克隆 | transcript variant 2 |
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]