LRCH1

Chr 13

leucine rich repeats and calponin homology domain containing 1

Also known as: CHDC1, NP81

NCBI Gene: 23143 ENSG00000136141 UniProt: Q9Y2L9

This protein acts as a negative regulator of the GTPase CDC42 by sequestering the CDC42-guanine exchange factor DOCK8, thereby inhibiting CD4+ T-cell migration. Mutations in LRCH1 cause neurodevelopmental disorders with intellectual disability and variable features including autism spectrum disorder, seizures, and motor delays. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function variants (pLI 0.996, LOEUF 0.279).

ResearchSummary from RefSeq, UniProt

This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.28

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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