Defective MAN1B1 causes MRT15

Stable Identifier
R-HSA-4793950
Type
Pathway
Species
Homo sapiens
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Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase (MAN1B1) normally trims single mannose residues from misfolded glycoproteins, targeting them for degradation and thus providing a quality control process for N-glycoyslated proteins. Defects in MAN1B1 can cause mental retardation, autosomal recessive 15 (MRT15; MIM:614202), a disorder resulting in nonsyndromic moderate to severe mental retardation. It is characterised by significantly below average intellectual functioning associated with impaired adaptative behaviour during the developmental period (Rafiq et al. 2010, Rafiq et al. 2011).

Literature References
PubMed ID Title Journal Year
20345473 Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan

Rafiq, MA, Ansar, M, Marshall, CR, Noor, A, Shaheen, N, Mowjoodi, A, Khan, MA, Ali, G, Amin-ud-Din, M, Feuk, L, Vincent, JB, Scherer, SW

Clin. Genet. 2010
21763484 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

Am. J. Hum. Genet. 2011
Participants
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Disease
Name Identifier Synonyms
non-specific X-linked mental retardation 0050776
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