人 SYT14 (NM_001256006) cDNA克隆

Accession: NM_001256006
基因名称: SYT14
基因别名: SCAR11; sytXIV
基因描述: Homo sapiens synaptotagmin XIV (SYT14), transcript variant 5, mRNA.
种属: Human
CDS区长度: 1554 (查看编码区序列)
翻译后氨基酸长度: 517 (查看氨基酸序列)
Transcript Variant: This variant (5) lacks two internal exons, contains an alternate internal exon in the 5' region, and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
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G123243 人 SYT14 (NM_001256006) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]