KNDC1
Chr 10kinase non-catalytic C-lobe domain containing 1
Also known as: C10orf23, RASGEF2, Very-KIND, bB439H18.3, v-KIND
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KNDC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools