TMEM138

Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene.^[1]

Clinical relevance

Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.^[2]

↑ "Entrez Gene: Transmembrane protein 138". Retrieved 2012-01-30.
↑ Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG (Feb 2012). "Evolutionarily assembled cis-regulatory module at a human ciliopathy locus". Science. 335 (6071): 966–9. doi:10.1126/science.1213506. PMID 22282472.