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NEDHRIT

Chr 14AR

Ral GTPase activating protein catalytic subunit alpha 1

Also known as: GARNL1, GRIPE, NEDHRIT, RalGAPalpha1, TULIP1, p240

NCBI Gene: 253959 OMIM: 618797

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.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— NEDHRIT

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDHRIT?content-type=application/json&expand=1

gnomad: Error: Gene not found