TMEM216 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human TMEM216 wild-type allele is located in the vicinity of 11q13.1 and is approximately 7 kb in length. This allele, which encodes transmembrane protein 216, plays a role in the formation of cilium. Mutation of the gene is associated with Joubert syndrome type 2 and Meckel syndrome type 2.

**Synonyms:** - Cerebello-Oculo-Renal Syndrome 2 Gene - HSPC244 - JBTS2 - MGC13379 - MKS2 - Meckel Syndrome, Type 2 Gene - Transmembrane Protein 216 wt Allele