PACS1 Chromosome 11
Phosphofurin acidic cluster sorting protein 1
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What This Gene Does
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 (8)
Schuurs-Hoeijmakers syndrome
PACS1-related disorder
Inborn genetic diseases
Intellectual disability
PACS1-related syndrome
Global developmental delay
Neurodevelopmental disorder
See cases
Key Variants
RS115491121
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, PACS1-related disorder, Schuurs-Hoeijmakers syndrome
Health Risk
RS115813669
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
RS1175983246
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1176211628
Conflicting classifications of pathogenicity
Health Risk
RS1285923468
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS140167187
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1406197729
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1422464917
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
RS148237222
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS1565150720
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
RS1590844551
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, Schuurs-Hoeijmakers syndrome
Health Risk
RS184092629
Conflicting classifications of pathogenicity
Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064795125 | Health Risk | Likely pathogenic | — |
| RS2495230982 | Health Risk | Likely pathogenic | Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome |
| RS2495549778 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2495611350 | Health Risk | Likely pathogenic | — |
| RS2134735819 | Health Risk | Pathogenic | Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome |
| RS398123009 | Health Risk | Pathogenic/Likely pathogenic | Schuurs-Hoeijmakers syndrome, Inborn genetic diseases, PACS1-related syndrome |