CXCL1
Chr 4C-X-C motif chemokine ligand 1
Also known as: FSP, GRO1, GROa, MGSA, MGSA-a, NAP-3, SCYB1
CXCL1 encodes a secreted chemokine that functions as a chemoattractant for neutrophils and signals through the G-protein coupled receptor CXCR2 to mediate inflammatory responses. The gene shows low constraint to loss-of-function variants (pLI 0.12, LOEUF 1.18), and no Mendelian diseases have been definitively linked to CXCL1 mutations in current databases. While aberrant expression is associated with tumor progression and inflammation, pathogenic germline variants causing pediatric neurological disorders have not been established.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CXCL1 · 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
External Resources
Links to major genomics databases and tools