Transmembrane Protein 216 (TMEM216)

By searching for genes in a region of chromosome 11 linked to Joubert syndrome-2 (JBTS2), Edvardson et al. (2010) identified TMEM216. The deduced 87-amino acid protein has 2 transmembrane domains.Edvardson et al. (2010) determined that the TMEM216 gene contains 3 coding exons.

By genomic sequence analysis, Edvardson et al. (2010) mapped the TMEM216 gene to chromosome 11q13.In 13 affected members of 8 Ashkenazi Jewish families with Joubert syndrome-2 (JBTS2), Edvardson et al. (2010) identified a homozygous mutation in the TMEM216 gene (R12L). The carrier rate in this ethnic group was determined to be 1 in 92.