RPGRIP1L wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RPGRIP1L wild-type allele is located in the vicinity of 16q12.2 and is approximately 106 kb in length. This allele, which encodes protein fantom, is involved in the establishment of epithelial cell polarity and in the downregulation of thromboxane-mediated signaling pathways. Mutations in the gene are associated with COACH syndrome, Joubert syndrome 7 and Meckel syndrome 5.

**Synonyms:** - COACH3 - CORS3 - FTM - Fantom Homolog Gene - JBTS7 - KIAA1005 - MKS5 - Meckel Syndrome, Type 5 Gene - NPHP8 - Nephrocystin 8 Gene - PPP1R134 - Protein Phosphatase 1, Regulatory Subunit 134 Gene - RPGRIP1 Like wt Allele - RPGRIP1-Like Gene