PI4KB Chromosome 1
Phosphatidylinositol 4-kinase beta
Upload your DNA to see your personal genotypes for variants in PI4KB.
What This Gene Does
Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Involved in inner ear development. Acts upstream of or within lysosome organization. Located in Golgi membrane. Implicated in autosomal dominant nonsyndromic deafness 87. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Hearing loss
autosomal dominant 87
Key Variants
RS2528612732
Pathogenic
Hearing loss, autosomal dominant 87, Hearing loss
Health Risk
RS2528620919
Pathogenic
Hearing loss, autosomal dominant 87, Hearing loss
Health Risk
RS2528758305
Pathogenic
Hearing loss, autosomal dominant 87, Hearing loss
Health Risk
RS765001640
Pathogenic
Hearing loss, autosomal dominant 87, Hearing loss
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2528612732 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 87, Hearing loss |
| RS2528620919 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 87, Hearing loss |
| RS2528758305 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 87, Hearing loss |
| RS765001640 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 87, Hearing loss |