PLEKHF1 Chromosome 19
Pleckstrin homology and FYVE domain containing 1
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What This Gene Does
Enables phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in endosome organization; positive regulation of autophagy; and protein localization to plasma membrane. Located in endosome and lysosome. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers FYVE-type|Pleckstrin homology domain containing"
Locus Type
gene with protein product
Location
19q12
Ensembl
ENSG00000166289
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201600613 | Health Risk | Conflicting classifications of pathogenicity | — |