APCDD1
Chr 18ADAPC down-regulated 1
Also known as: B7323, DRAPC1, FP7019, HHS, HTS, HYPT1
The protein functions as a negative regulator of the Wnt signaling pathway, inhibiting Wnt signaling upstream of beta-catenin through interactions with Wnt and LRP proteins. Mutations cause hypotrichosis 1, characterized by hereditary hair loss, and follow an autosomal dominant inheritance pattern. The gene shows low constraint to loss-of-function variants (pLI 0.007), suggesting tolerance to complete protein loss.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
APCDD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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