Health / Medical Topics |
TMEM216 wt Allele
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. (NCI Thesaurus)
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