TMEM231, Official Symbol TMEM231provided by HGNC Official Full Name transmembrane protein 231provided by HGNC Primary source HGNC:HGNC:37234 See related Ensembl:ENSG00000205084 MIM:614949; AllianceGenome:HGNC:37234 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MKS11; JBTS20; ALYE870; PRO1886 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. [provided by RefSeq, Jan 2013] Expression Broad expression in testis (RPKM 8.7), thyroid (RPKM 6.9) and 24 other tissues See more Orthologs mouse all