This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
| Accession: | NM_001172292 |
|---|---|
| 基因名称: | NIPAL4 |
| 基因别名: | ARCI6; ICHYN; ICHTHYIN |
| 基因描述: | Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 2, mRNA. |
| 种属: | Human |
| CDS区长度: | 1344 (查看编码区序列) |
| 翻译后氨基酸长度: | 447 (查看氨基酸序列) |
| Transcript Variant: | This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. |
| 人 NIPAL4 (NM_001099287) cDNA克隆 | transcript variant 1 |
| 人 NIPAL4 (NM_001172292) cDNA克隆 | transcript variant 2 |
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]