BBS9 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BBS9 wild-type allele is located in the vicinity of 7p14 and is approximately 477 kb in length. This allele, which encodes protein PTHB1, is involved in ciliogenesis. Mutation of both copies of this gene is associated with Bardet-Biedl syndrome 9.

**Synonyms:** - B1 - Bardet-Biedl Syndrome 9 wt Allele - C18 - D1 - PTH-Responsive B1 Gene - PTHB1 - Parathyroid Hormone Responsive B1 Gene - Parathyroid Hormone-Responsive B1 Gene