人 CRB1 (NM_001257966) cDNA克隆

Accession: NM_001257966
基因名称: CRB1
基因别名: LCA8; RP12
基因描述: Homo sapiens crumbs family member 1, photoreceptor morphogenesis associated (CRB1), transcript variant 4, mRNA.
种属: Human
CDS区长度: 2613 (查看编码区序列)
翻译后氨基酸长度: 870 (查看氨基酸序列)
Transcript Variant: This variant (4) lacks an alternate in-frame segment of two coding exons and most of a third compared to variant 1. The resulting isoform (4) has the same N- and C-termini but lacks an alternate internal segment compared to isoform 1.
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G140684 人 CRB1 (NM_001257966) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]