" /> AP1S2 wt Allele - CISMeF





Preferred Label : AP1S2 wt Allele;

NCIt synonyms : Clathrin-Associated/Assembly/Adaptor Protein, Small 1-Like Gene; Adaptor Protein Complex AP-1 Sigma-1B Subunit Gene; Mental Retardation, X-Linked, Syndromic 5 Gene; SIGMA1B; MRX59; PGS; DC22; Adaptor-Related Protein Complex 1, Sigma-2 Subunit Gene; Adapter-Related Protein Complex 1 Sigma-1B Subunit Gene; Adaptor Related Protein Complex 1 Subunit Sigma 2 wt Allele; Pettigrew X-Linked Mental Retardation Syndrome Gene; MRXS5; MRXS21; Mental Retardation, X-Linked 59 Gene; Clathrin Adaptor Complex AP1, Sigma-1B Subunit Gene; Adaptor Related Protein Complex 1 Sigma 2 Subunit Gene; MRXSF; Clathrin Adaptor Complex AP1 Sigma 1B Subunit Gene;

NCIt definition : Human AP1S2 wild-type allele is located in the vicinity of Xp22.2 and is approximately 29 kb in length. This allele, which encodes AP-1 complex subunit sigma-2 protein, plays a role in recruitment of clathrin and cargo proteins to the membrane of the Golgi apparatus. Mutations in the gene are associated with Pettigrew syndrome.;

GenBank Accession Number : AB015320;

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28/07/2025


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