Gene Symbol | TMEM216 |
Entrez Gene ID | 51259 |
Full Name | transmembrane protein 216 |
Synonyms | HSPC244 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 2, 608091 (3); Meckel syndrome 2, 603194 (3) |