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PACS1 phosphofurin acidic cluster sorting protein 1

Gene ID: 55690, updated on 28-Oct-2024
Gene type: protein coding
Also known as: SHMS; MRD17

Summary

This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
GeneReviews: Not available
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
GeneReviews: Not available
Schuurs-Hoeijmakers syndromeSee labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-12-14)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2021-12-14)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
11q13.1-q13.2
Sequence:
Chromosome: 11; NC_000011.10 (66070272..66244744)
Total number of exons:
26

Links

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