LBR wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human LBR wild-type allele is located in the vicinity of 1q42.12 and is approximately 27 kb in length. This allele, which encodes delta(14)-sterol reductase LBR protein, plays a role in lanosterol metabolism and binding to lamin B. Mutations in the gene are associated with Pelger-Huet anomaly, rhizomelic skeletal dysplasia, Reynolds syndrome and autosomal recessive hydrops-ectopic calcification-moth-eaten (HEM)/Greenberg skeletal dysplasia.

**Synonyms:** - C14SR - DHCR14B - Delta14-Sterol Reductase (Lamin-B Receptor) Gene - LMN2R - Lamin B Receptor wt Allele - PHA - PHASK - TDRD18 - Tudor Domain Containing 18 Gene