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 |
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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]