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]
| Accession: | NM_001587 |
|---|---|
| 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 b, mRNA. |
| 种属: | Human |
| CDS区长度: | 2682 (查看编码区序列) |
| 翻译后氨基酸长度: | 893 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shorter C-terminus, compared to isoform 1. |
| 人 OCRL (NM_000276) cDNA克隆 | transcript variant a |
| 人 OCRL (NM_001587) cDNA克隆 | transcript variant b |
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]