人 LBR (NM_002296) cDNA克隆

Accession: NM_002296
基因名称: LBR
基因别名: PHA; LMN2R; TDRD18; DHCR14B
基因描述: Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1848 (查看编码区序列)
翻译后氨基酸长度: 615 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
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G113681 人 LBR (NM_002296) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]