- accession:NM_001160277
- 基因别名:CERKL
- 基因描述:Homo sapiens ceramide kinase-like (CERKL), transcript variant 7, mRNA.
- 载体:现货载体
- CDS区长度:1545
- 翻译后氨基酸长度:514
- TranscriptVariant:This variant (7) lacks one alternate in-frame exon in the central coding region, compared to variant 2. The resulting isoform (7) lacks an internal segment, compared to 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
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