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NEDHISB

Chr 7AD

G protein subunit alpha i1

Also known as: Gi, HG1B, NEDHISB

NCBI Gene: 2770 OMIM: 619854

The protein is the alpha subunit of an inhibitory G protein complex that responds to beta-adrenergic signals by inhibiting adenylyl cyclase. Mutations cause neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities with autosomal dominant inheritance. This represents a recently recognized cause of neurodevelopmental delays affecting motor tone, language development, and behavior.

OMIM ResearchSummary from RefSeq, OMIM

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesMIM #619854

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities; no ClinGen or GenCC tier

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 (2)

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