人 PCDH19 (NM_020766) cDNA克隆

Accession: NM_020766
基因名称: PCDH19
基因别名: EFMR; EIEE9
基因描述: Homo sapiens protocadherin 19 (PCDH19), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3303 (查看编码区序列)
翻译后氨基酸长度: 1100 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.
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G156537 人 PCDH19 (NM_020766) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]