PDZD8 Chromosome 10
PDZ domain containing 8
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What This Gene Does
Predicted to enable lipid binding activity and zinc ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane contact site. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
10q25.3-q26.11
Ensembl
ENSG00000165650
Associated Conditions (1)
Intellectual developmental disorder with autism and dysmorphic facies
Key Variants
RS2493575727
Pathogenic
Intellectual developmental disorder with autism and dysmorphic facies, Intellectual developmental disorder with autism and dysmorphic facies
Health Risk
RS770780478
Pathogenic
Intellectual developmental disorder with autism and dysmorphic facies, Intellectual developmental disorder with autism and dysmorphic facies
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2493575727 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and dysmorphic facies, Intellectual developmental disorder with autism and dysmorphic facies |
| RS770780478 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and dysmorphic facies, Intellectual developmental disorder with autism and dysmorphic facies |