LDLR wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human LDLR wild-type allele is located in the vicinity of 19p13.3 and is approximately 44 kb in length. This allele, which encodes low-density lipoprotein receptor protein, is involved in cholesterol biosynthesis. Mutations in the gene result in autosomal dominant disorder, familial hypercholesterolemia.

**Synonyms:** - FH - FHC - Familial Hypercholesterolemia Gene - LDLCQ2 - LDLR - Low Density Lipoprotein Receptor (Familial Hypercholesterolemia) Gene - Low Density Lipoprotein Receptor wt Allele