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Transmembrane protein 216 (TMEM216)
- Target
- TMEM216
- Molecular classification
- Other (integral membrane protein; not a receptor, enzyme, transporter, or classical signaling molecule)
01
Overview
Transmembrane protein 216 (TMEM216) is an integral membrane protein that is part of the tectonic-like complex required for tissue-specific ciliogenesis, likely regulating ciliary membrane composition and involved in the maintenance and development of cilia in various tissues. Mutations in TMEM216 can cause ciliopathies including Joubert syndrome type 2 and Meckel syndrome type 2, disorders characterized by developmental and neurological defects. This gene has no established role as a therapeutic target, nor are there known direct pharmacological modulators or biomarkers currently used in clinical practice.
- Other names
- HSPC244MGC13379JBTS2CORS2MKS2RP98
02
Biological functions
Ciliogenesis (formation of cilia)regulation of ciliary membrane compositionorganelle biogenesis and maintenance
03
Disease associations
Joubert syndrome 2Meckel syndrome type 2non-syndromic retinitis pigmentosa
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