MYO9B
MIM.602129 19p13.1
myosin-IXB
The gene myosin IXB (MYO9B) encodes an unconventional myosin molecule that has a role in actin remodeling of epithelial enterocytes.
Pathology
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
- It is suggestive of a primary impairment of the intestinal barrier in the etiology of celiac disease, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier. (16282976)
References
Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van?t Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C. Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect. Nat Genet. 2005 Dec;37(12):1341-4. PMID: 16282976