KNDC1

Chr 10

kinase non-catalytic C-lobe domain containing 1

Also known as: C10orf23, RASGEF2, Very-KIND, bB439H18.3, v-KIND

NCBI Gene: 85442 ENSG00000171798 UniProt: Q76NI1 OMIM: 616237

The protein is a Ras guanine nucleotide exchange factor that negatively regulates dendritic growth in neurons and may be involved in cellular senescence. Mutations cause autosomal recessive spastic paraplegia, intellectual disability, nystagmus, and obesity (SPINOBY syndrome), typically presenting in early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.398), suggesting intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]

OMIM 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

0.40

LOEUF

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Mechanism