人 L1CAM (NM_000425) cDNA克隆

Accession: NM_000425
基因名称: L1CAM
基因别名: S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1
基因描述: Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3774 (查看编码区序列)
翻译后氨基酸长度: 1257 (查看氨基酸序列)
Transcript Variant: This variant (1, also known as FL-L1CAM) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 4. Variants 1 and 4 encode the same isoform (1).
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G151680 人 L1CAM (NM_000425) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]