Gene Symbol | CPLANE1 |
Entrez Gene ID | 65250 |
Full Name | chromosome 5 open reading frame 42 |
Synonyms | Hug,JBTS17,OFD6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 17, 614615 (3); Orofaciodigital syndrome VI, 277170 (3) |