PLEKHA5 Chromosome 12
Pleckstrin homology domain containing A5
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What This Gene Does
Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to act upstream of or within reproductive system development. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000052126
Associated Conditions (1)
Cleft lip with or without cleft palate
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779785581 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |