This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
人 LCA5 (NM_181714) cDNA克隆
| Accession: | NM_181714 |
|---|---|
| 基因名称: | LCA5 |
| 基因别名: | C6orf152 |
| 基因描述: | Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 2094 (查看编码区序列) |
| 翻译后氨基酸长度: | 697 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein. |
| 人 LCA5 (NM_181714) cDNA克隆 | transcript variant 1 |
| 人 LCA5 (NM_001122769) cDNA克隆 | transcript variant 2 |
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