Common Name:Lamin-B receptor
Other Names, such as IUPAC Name
Integral nuclear envelope inner membrane protein, LMN2R
Important Issues in Man
Relevant Clinical Literature
Wikipedia on Lamin-B receptor (Less technical, ? quality control)
The LBR gene at 1q42.12 codes for 581 amino acid propeptide to the lamin-B receptor which anchors the nuclear lamina and the heterochromatin to the inner nuclear membrane. This has 8 transmembrane regions.
Mutations in LBR cause:
- Pelger-Huet anomaly(PHA) of neutrophils
- Greenberg dysplasia (GRBGD) which is an autosomal recessive chondrodystrophy with early in utero lethality manifest as fetal hydrops, short-limbed dwarfism, and a marked disorganization of chondro-osseous calcification, and ectopic ossification centers.
- Reynolds syndrome (REYNS) with