GENETIC ENCYCLOPEDIA
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gene: SNAPIN

id23557
symbolSNAPIN
organismHomo sapiens
full nameSNAP associated protein
summaryThe protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
variant-disease

NM_012437.5(SNAPIN):c.163C>T (p.Arg55Trp) AND Abnormality of brain morphology

NC_000001.10:g.153615996_153724866dup AND not provided

GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 AND See cases

GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3 AND See cases

GRCh37/hg19 1q21.3(chr1:153488723-153750339)x3 AND not provided

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