PLEKHN1 Chromosome 1

Pleckstrin homology domain containing N1

1 variant 1 Health Risk

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What This Gene Does

Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in several cellular components, including cytoskeleton; cytosol; and mitochondrial membrane. [provided by Alliance of Genome Resources, Jul 2025]

Gene Info

Gene Group

Pleckstrin homology domain containing

Locus Type

gene with protein product

Location

1p36.33

Ensembl

ENSG00000187583

Key Variants

RS201434720

Conflicting classifications of pathogenicity

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS201434720	Health Risk	Conflicting classifications of pathogenicity	—