AP1S2

Chr X

adaptor related protein complex 1 subunit sigma 2

Also known as: DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B

NCBI Gene: 8905 ENSG00000182287 UniProt: P56377

The protein serves as the small subunit of adaptor protein complex 1, which mediates clathrin recruitment to membranes and recognizes sorting signals in transmembrane cargo molecules at the Golgi complex and endosomes. Mutations cause Pettigrew syndrome, an X-linked recessive disorder. The gene is highly constrained against loss-of-function variants (pLI 0.87, LOEUF 0.45).

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPettigrew syndrome

Clinical highlights

Gene-disease validity (ClinGen)

X-linked syndromic complex neurodevelopmental disorder · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.45

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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