" /> LBR wt Allele - CISMeF





Preferred Label : LBR wt Allele;

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

NCIt 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.;

GenBank Accession Number : L25931;

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12/05/2024


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