Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H.
Rafiq MA, et al.
Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006.
Am J Hum Genet. 2011.
PMID: 21763484
Free PMC article.
Both missense mutations are at amino acid residues that are conserved across the animal kingdom, and they either reduce k(cat) by 1300-fold or disrupt stable protein expression in mammalian cells. MAN1B1 is one of the few NS-ARID genes with an elevated mutation frequency i …
Both missense mutations are at amino acid residues that are conserved across the animal kingdom, and they either reduce k(cat) by 130 …