" /> SHANK3 wt Allele - CISMeF





Preferred Label : SHANK3 wt Allele;

NCIt synonyms : SH3 and Multiple Ankyrin Repeat Domains 3 wt Allele; KIAA1650; DEL22q13.3; SCZD15; PROSAP2; SPANK-2; PSAP2;

NCIt definition : Human SHANK3 wild-type allele is located in the vicinity of 22q13.3 and is approximately 59 kb in length. This allele, which encodes SH3 and multiple ankyrin repeat domains protein 3, may play a role in neuronal function. Mutations in this gene are associated with 22q telomere deletion syndrome.;

NCIt note : Because the SHANK3 gene encodes a structural protein of the postsynaptic density, the analysis supported haploinsufficiency of this gene as a major causative factor in the neurologic symptoms of 22q13 deletion syndrome.;

GenBank Accession Number : NM_001080420; AB051437;

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20/05/2024


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