A maternally-inherited nonsense variant in the AP1S2 gene (c.154C>T; p.Arg52Ter) was identified in three affected males from a XLMR pedigree: two siblings with profound mental retardation (MR) and DSM-IV diagnoses of ASD, and a maternal uncle with profound MR (Borck et al., 2008).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
