Ap1s3 gene

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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AP1S3 is the acronym for "Adaptor protein complex 1, sigma-1C subunit2, a gene located on chromosome 2q36.1. The gene encodes a subunit of the adaptor protein complex 1 (AP-1).

The AP (adaptor protein) complexes (from Latin. adaptare = adapt) are heterotetrameric protein complexes that mediate intracellular membrane transport along endocytic and secretory transport pathways. The adapter proteins mediate important connections between receptors and downstream members of the signalling pathways. AP1S3 mutations are also detected in pustulosa generalisata psoriasis, acrodermatitis continua suppurativa and pustulosis palmoplantaris (Setta-Kaffetzi N et al. 2014). These 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. Nakatsu F et al (2003). Adaptor protein complexes as the keyregulators of protein sorting in the post-Golgi network. Cell structure and function 28: 419-429.
  2. 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