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NEDHRIT
Chr 14ARRal GTPase activating protein catalytic subunit alpha 1
Also known as: GARNL1, GRIPE, NEDHRIT, RalGAPalpha1, TULIP1, p240
The protein is a major subunit of RAL-GTPase activating protein that also binds transcriptional regulators and regulatory 14-3-3 proteins in skeletal muscle upon insulin stimulation or muscle contraction. Autosomal recessive mutations cause a neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation, indicating early onset with involvement of the nervous system, respiratory system, and temperature regulation.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHRIT?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDHRIT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools