Intellectual disability and mood disorder associated with partial deletion of the Neurexin 1 Gene

ABSTRACT: Abstract Background Neurexins are proteins located in the presynaptic membrane that bind postsynaptic ligands, neuroligins, neurexophilins, and dystrophoglycan. They exert profound effects on neurological function by mediating signalling across synapses and determining synaptic characteristics through the recruitment of additional proteins for synapse formation. Alterations in neurexin-encoding genes cause cognitive disorders such as autism, developmental delay and schizophrenia. The three neurexin genes in the human genome (NRXN1, NRXN2, and NRXN3) each have two different functional promoters, producing a large (alpha) and small (beta) transcript with corresponding proteins. NRXN1 produces hundreds, perhaps thousands, of different transcripts with differential localization in the CNS. R

ORGANISM(S): Homo sapiens

SUBMITTER: Patricia Bray-Ward 

PROVIDER: E-GEOD-23358 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress