PHLDB1 Chromosome 11
Pleckstrin homology like domain family B member 1
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What This Gene Does
Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in basal cortex. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"Pleckstrin homology domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000019144
Associated Conditions (2)
Osteogenesis imperfecta
type 23
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2499526690 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 23, Osteogenesis imperfecta |
| RS2499665135 | Health Risk | Pathogenic | Osteogenesis imperfecta, type 23, Osteogenesis imperfecta |