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STXBP1

From SNPedia
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# SNPs91
 Max MagnitudeChromosome positionSummary
rs10575178560127,672,099
rs10575178800127,668,162
rs10575181230127,682,407
rs10575181540127,673,246
rs10575181670127,653,775
rs10575183310127,612,440
rs10575189850127,673,233
rs10575189890127,673,223
rs10575195010127,672,093
rs10575195370127,682,423
rs10575195380127,651,622
rs10575195390127,678,479
rs10575205440127,682,547
rs10575206310127,666,301
rs10575229820127,678,429
rs10575233810127,682,500
rs10575247950127,666,245
rs10575248340127,666,269
rs10605017220127,678,505
rs10605017230127,660,048
rs10605017240127,661,161
rs10647934140127,675,897
rs10647939840127,651,649
rs10647943220127,668,174
rs10647959990127,666,211
rs10647967200127,666,250
rs10647969890127,661,196
rs10853074650127,669,959
rs10853079000127,653,734
rs10853079160127,672,090
rs10853080220127,666,197
rs1121115680127,665,245
rs1219183178127,682,489
rs1219183188127,663,314
rs1219183198127,676,722
rs1219183208127,660,034
rs1219183218127,675,855
rs5877766418127,653,797
rs5877773108127,668,132
rs5877844530127,666,236
rs5877844548127,666,256
rs5877844550127,663,208
rs7275041738127,672,117
rs7492446500127,682,465
rs7511707788127,668,083
rs7862055980127,668,159
rs7947277928127,661,140
rs7947279700127,666,206
rs7960533500127,651,653
rs7960533510127,653,713
... further results

The STXB1 gene is located on chromosome 9 and encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4.GHR

Mutations in the STXB1 gene are apparently often de novo mutations, consistent with the sporadic occurrence of the disorder, and their mode of inheritance is considered dominant. Unaffected parents may be mosiac for the mutation in their germ cells (i.e. the progenitor cells of their sperm or eggs), according to one publication cited in OMIM.