人 PCDH19 (NM_001105243) cDNA克隆

Accession: NM_001105243
基因名称: PCDH19
基因别名: EFMR; EIEE9
基因描述: Homo sapiens protocadherin 19 (PCDH19), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3306 (查看编码区序列)
翻译后氨基酸长度: 1101 (查看氨基酸序列)
Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.
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G156535 人 PCDH19 (NM_001105243) 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]