靶标:
LBR
产品别名:
C14SR; DHCR14B; LMN2R; PHA; PHASK; TDRD18; LBR; lamin B receptor; lamin B receptor; delta(14)-sterol reductase LBR; 3-beta-hydroxysterol Delta (14)-reductase; C-14 sterol reductase; delta-14-SR; integral nuclear envelope inner membrane protein; sterol C14-reductase; tudor domain containing 18; 核纤层蛋白B受体;
背景信息:
Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene. It is mapped to 1q42.12. 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.