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NEDHRIT

Chr 14

Ral GTPase activating protein catalytic subunit alpha 1

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

NCBI Gene: 253959

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.

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)