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TMEM216 gene

Known as: MGC13379, TRANSMEMBRANE PROTEIN 216, Transmembrane Protein 216 Gene 
This gene is involved in ciliogenesis.
National Institutes of Health

Related topics

Related topics

3 relations
Cell Surface ExtensionsJOUBERT SYNDROME 2

Narrower (1)

TMEM216 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Identification des bases moléculaires et physiopathologiques des syndromes oro-facio-digitaux
Les syndromes oro-facio-digitaux (OFD) sont caracterises par la presence d'une atteinte orale, faciale et digitale et classes en… 
2015
2015
The extra ciliary roles of Meckel-Gruber syndrome proteins
Meckel-Gruber syndrome (MKS) is a recessive genetic disease that is uniformly lethal in affected children due to resultant… 
2013
2013
Molar tooth sign is not pathognomonic for Joubert syndrome.
2013
2013
Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216.
Recently, Lee et al. (Lee JH, Silhavy JL, Lee JE, et al. (30 co-authors). 2012. Evolutionarily assembled cis-regulatory module at… 
2011
2011
TMEM216 joins its ciliary cousins in ciliopathies
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes 
2010
2010
Is Associated with a TMEM216 Mutation
Patients with Joubert syndrome 2 (JBTS2) suffer from a neurological disease manifested by psychomotor retardation, hypotonia… 
2005
2005
CNS malformations: gene locations of known human mutations.
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