AP1S3

AP1S3

A gene on chromosome 2q36.1 that encodes a subunit of the trans-Golgi network clathrin-associated protein complex AP-1, which is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. The vesicles are involved in protein sorting in the late-Golgi/trans-Golgi network and/or endosomes; the AP complexes recruit clathrin to membranes and recognise sorting signals within the cytosolic tails of transmembrane cargo molecules.
References in periodicals archive ?
Bachelez emphasizes that mutations in IL36RN, CARD14, and AP1S3 in these groups of diseases lead to an enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages (17).
Among these top signals, three CpG sites showed a negative association with N[O.sub.2] exposure: cg04908668 (PSMB9, chr6), cg00344801 (TTC38, chr22), and cg02234653 (AP1S3, chr2); four showed a positive association: cg14938677 (ARF5, chr7), cg18379295 (GNG2, chr14), cg25769469 (PTCD2, chr5), and cg08500171 (BAT2, chr6).
Palmoplantar pustulosis (PPP) is the most common type of localized PP in the palmoplantar regions.[sup][1] Recent studies have discovered several susceptibility genes for psoriasis, some of which, such as interleukin 36 receptor antagonist ( IL36RN ) and caspase recruitment domain family member 14 ( CARD14 ), are shared between PP and PsV.[sup][2],[3] Mutations of adaptor-related protein complex 1 sigma three subunits ( AP1S3 ) were also detected in GPP, PPP, and acrodermatitis continua of Hallopeau (ACH).[sup][1] These findings suggested that there might be common susceptible genes between PP and PsV.
For instance, mutations of IL36RN , CARD14 , and AP1S3 genes are associated with GPP.[sup][1],[2],[3] The IL36RN mutation was also detected in PsV patients, suggesting that IL36RN plays a role in the development of PsV and GPP.