LARGE encodes a likely enzyme; this gene also receives much cumulative support from these genome wide association datasets. LARGE encodes a protein with high homology to acetylglucosaminyltransferases. Brain provides many of the LARGE expressed sequence tags, while in situ hybridization documents high levels of expression in apparent neurons in a number of brain regions, including hippocampus and cortex [172]. In muscle, interrelationships between dystroglycans, LARGE and its family members have been so well documented that interactions with other dystroglycans in brain also appear likely [270]. Humans with LARGE mutations can express developmental delay as well as muscular dystrophies; a spontaneously occurring mouse model is also available [271].
