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_001099287 |
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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 1, mRNA. |
种属: | Human |
CDS区长度: | 1401 (查看编码区序列) |
翻译后氨基酸长度: | 466 (查看氨基酸序列) |
Transcript Variant: | This variant (1) represents the longer transcript and encodes the longer 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]