人 VSX1 (NM_199425) cDNA克隆

Accession: NM_199425
基因名称: VSX1
基因别名: PPD; KTCN; PPCD; RINX; KTCN1; CAASDS
基因描述: Homo sapiens visual system homeobox 1 (VSX1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 720 (查看编码区序列)
翻译后氨基酸长度: 239 (查看氨基酸序列)
Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1, resulting in a shorter isoform (b) that has a distinct C-terminus compared to isoform a.
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G122211 人 VSX1 (NM_199425) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]