ZFTRAF1 Chromosome 8
Zinc finger TRAF-type and ring finger containing 1
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What This Gene Does
Predicted to enable zinc ion binding activity. Predicted to be located in nuclear envelope and perinuclear region of cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers TRAF-type"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000187954
Associated Conditions (1)
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Key Variants
RS2537521414
Likely pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
RS2537521774
Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
RS2537530774
Pathogenic
Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2537521414 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
| RS2537521774 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |
| RS2537530774 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay |