This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
人 TMEM216 (NM_016499) cDNA克隆 | transcript variant 1 |
人 TMEM216 (NM_001173990) cDNA克隆 | transcript variant 2 |
人 TMEM216 (NM_001173991) cDNA克隆 | transcript variant 3 |
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]