This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
Accession: | NM_001101426 |
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基因名称: | ISPD |
基因别名: | Nip; MDDGA7; hCG_1745121; RP11-196O16.1 |
基因描述: | Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA. |
种属: | Human |
CDS区长度: | 1356 (查看编码区序列) |
翻译后氨基酸长度: | 451 (查看氨基酸序列) |
Transcript Variant: | This variant (1) represents the longer transcript and encodes the longer isoform (a). |
人 ISPD (NM_001101426) cDNA克隆 | transcript variant 1 |
人 ISPD (NM_001101417) cDNA克隆 | transcript variant 2 |
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]