Ap1s3 gene

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Adaptor protein complex 1, sigma-1C subunit

Definition
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AP1S3 is the acronym for "Adaptor protein complex 1, sigma-1C subunit a gene located on chromosome 2q36.1. The gene encodes a subunit of the adaptor protein complex 1 (AP-1).

AP1S3 mutations are also found in pustulosa generalisata psoriasis, acrodermatitis continua suppurativa and pustulosis palmoplantaris (Setta-Kaffetzi N et al. 2014). The detected mutations lead to an autoreactive inflammatory response via an overexpression of IL 36 (Setta-Kaffetzi N et al. 2014).

Literature
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  1. Setta-Kaffetzi N et al (2014) AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. At J Hum Genet 94: 790-797

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Last updated on: 29.10.2020