NAE1 Chromosome 16
NEDD8 activating enzyme E1 subunit 1
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What This Gene Does
The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ubiquitin like modifier activating enzymes
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000159593
Associated Conditions (1)
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
Key Variants
RS1959664594
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
Health Risk
RS760101172
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
Health Risk
RS777573115
Pathogenic
Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1959664594 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia |
| RS760101172 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia |
| RS777573115 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia |