Adaptor-Related Protein Complex 1 (AP1S2) Human Recombinant Protein

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

AP1S2: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Defects in AP1S2 are the cause of mental retardation X- linked type 59 (MRX59). It is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X-linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation. MRX59 consists of a mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking. Belongs to the adaptor complexes small subunit family.

Chromosomal Location of Human Ortholog: Xp22.2

Cellular Component: Golgi membrane; cytoplasmic vesicle membrane; lysosomal membrane; AP-type membrane coat adaptor complex; coated pit; trans-Golgi network membrane; cytosol

Molecular Function: protein transporter activity

Biological Process: intracellular protein transport; viral reproduction; antigen processing and presentation of exogenous peptide antigen via MHC class II; post-Golgi vesicle-mediated transport; regulation of defense response to virus by virus

Disease: Mental Retardation, X-linked, Syndromic 5