AP1S2 gene

adaptor related protein complex 1 sigma 2 subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From UniProt:

Pettigrew syndrome (PGS): A syndrome characterized by mental retardation and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:304340]

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2

Molecular Location: base pairs 15,825,806 to 15,855,014 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2
  • DC22
  • MRX59
  • MRXS5
  • MRXS21
  • MRXSF
  • PGS
  • SIGMA1B