- accession:NM_001030311
- 基因别名:CERKL
- 基因描述:Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1677
- 翻译后氨基酸长度:558
- TranscriptVariant:This variant (2) represents the longest transcript and encodes the longest isoform (2).
- 基因简介:This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列