人 CLN3 (NM_001286104) cDNA克隆

Accession: NM_001286104
基因名称: CLN3
基因别名: BTS; JNCL
基因描述: Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1245 (查看编码区序列)
翻译后氨基酸长度: 414 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
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G101922 人 CLN3 (NM_001286104) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]