Gene: TMEM231

Alternate names for this Gene: ALYE870|JBTS20|MKS11|PRO1886

Gene Summary: This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.1

Description of this Gene: transmembrane protein 231

Type of Gene: protein-coding

rs151269874 in TMEM231 gene and Acute Coronary Syndrome PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

rs151269874 in TMEM231 gene and Coronary heart disease PMID 28753643 2017 Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib.

rs200799769 in TMEM231 gene and JOUBERT SYNDROME 20 PMID 27449316 2016 TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PMID 25869670 2015 TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

rs200799769 in TMEM231 gene and MECKEL SYNDROME, TYPE 11 PMID 27449316 2016 TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

PMID 23012439 2012 Mutations in TMEM231 cause Joubert syndrome in French Canadians.

PMID 23349226 2013 Mutations in TMEM231 cause Meckel-Gruber syndrome.

PMID 25869670 2015 TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.