TMEM231 cDNA ORF clone, Homo sapiens(human)

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, , Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M
Human mutation37(11)1144-1148(2016 11)

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert?syndrome.
Lambacher NJ, Bruel AL, van Dam TJ, Szyma?ska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivi?re JB, Faivre L, Atti?-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE
Nature cell biology18(1)122-31(2016 Jan)

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Atti?-Bitach T, Hildebrandt F, Leroux MR, Reiter JF
The Journal of cell biology209(1)129-42(2015 Apr)

Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
Wolpin BM, Rizzato C, Kraft P, Kooperberg C, Petersen GM, Wang Z, Arslan AA, Beane-Freeman L, Bracci PM, Buring J, Canzian F, Duell EJ, Gallinger S, Giles GG, Goodman GE, Goodman PJ, Jacobs EJ, Kamineni A, Klein AP, Kolonel LN, Kulke MH, Li D, Malats N, Olson SH, Risch HA, Sesso HD, Visvanathan K, White E, Zheng W, Abnet CC, Albanes D, Andreotti G, Austin MA, Barfield R, Basso D, Berndt SI, Boutron-Ruault MC, Brotzman M, B?chler MW, Bueno-de-Mesquita HB, Bugert P, Burdette L, Campa D, Caporaso NE, Capurso G, Chung C, Cotterchio M, Costello E, Elena J, Funel N, Gaziano JM, Giese NA, Giovannucci EL, Goggins M, Gorman MJ, Gross M, Haiman CA, Hassan M, Helzlsouer KJ, Henderson BE, Holly EA, Hu N, Hunter DJ, Innocenti F, Jenab M, Kaaks R, Key TJ, Khaw KT, Klein EA, Kogevinas M, Krogh V, Kupcinskas J, Kurtz RC, LaCroix A, Landi MT, Landi S, Le Marchand L, Mambrini A, Mannisto S, Milne RL, Nakamura Y, Oberg AL, Owzar K, Patel AV, Peeters PH, Peters U, Pezzilli R, Piepoli A, Porta M, Real FX, Riboli E, Rothman N, Scarpa A, Shu XO, Silverman DT, Soucek P, Sund M, Talar-Wojnarowska R, Taylor PR, Theodoropoulos GE, Thornquist M, Tj?nneland A, Tobias GS, Trichopoulos D, Vodicka P, Wactawski-Wende J, Wentzensen N, Wu C, Yu H, Yu K, Zeleniuch-Jacquotte A, Hoover R, Hartge P, Fuchs C, Chanock SJ, Stolzenberg-Solomon RS, Amundadottir LT
Nature genetics46(9)994-1000(2014 Sep)

Mutations in TMEM231 cause Meckel-Gruber syndrome.
Shaheen R, Ansari S, Mardawi EA, Alshammari MJ, Alkuraya FS
Journal of medical genetics50(3)160-2(2013 Mar)

Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome.
Title: TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS.
Title: TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies.
Title: Mutations in TMEM231 cause Meckel-Gruber syndrome.

mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone.
Title: Mutations in TMEM231 cause Joubert syndrome in French Canadians.