This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]
人 OCRL (NM_000276) cDNA克隆
| Accession: | NM_000276 |
|---|---|
| 基因名称: | OCRL |
| 基因别名: | LOCR; NPHL2; OCRL1; INPP5F; OCRL-1 |
| 基因描述: | Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA. |
| 种属: | Human |
| CDS区长度: | 2706 (查看编码区序列) |
| 翻译后氨基酸长度: | 901 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the longer transcript and it encodes isoform (a). |
| 人 OCRL (NM_000276) cDNA克隆 | transcript variant a |
| 人 OCRL (NM_001587) cDNA克隆 | transcript variant b |
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