The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
人 SPG11 (NM_025137) cDNA克隆
| Accession: | NM_025137 |
|---|---|
| 基因名称: | SPG11 |
| 基因别名: | KIAA1840 |
| 基因描述: | Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 7332 (查看编码区序列) |
| 翻译后氨基酸长度: | 2443 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| 人 SPG11 (NM_025137) cDNA克隆 | transcript variant 1 |
| 人 SPG11 (NM_001160227) cDNA克隆 | transcript variant 2 |
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