Ain-Naz type of dysostosis multiplex (DMAN) is a severe inherited skeletal dysplasia which resembles GlcNAc-1-phosphotransferase (GNPT) deficiency [DS:H00143]. It has been reported that mutations in LYSET/TMEM251 cause DMAN. Recently, LYSET has been discovered as a key regulator of the M6P pathway. LYSET is a Golgi-localized transmembrane protein important for the retention of the GNPT complex in the Golgi apparatus. GNPT is the enzyme that catalyzes the transfer of M6P.
Ain NU, Muhammad N, Dianatpour M, Baroncelli M, Iqbal M, Fard MAF, Bukhari I, Ahmed S, Hajipour M, Tabatabaie Z, Foroutan H, Nilsson O, Faghihi MA, Makitie O, Naz S
タイトル
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
