DSC3
Chr 18ARdesmocollin 3
Also known as: CDHF3, DSC, DSC1, DSC2, DSC4, HT-CP
Desmocollin-3 is a calcium-dependent glycoprotein that forms part of desmosome cell-cell junctions, functioning as an adhesive protein essential for epidermal cell adhesion, dermal barrier function, and hair shaft anchorage. Mutations cause hypotrichosis and recurrent skin vesicles, a disorder affecting hair growth and skin integrity. This condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
249 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 37 | 0 | 37 |
Likely Pathogenic | 4 | 0 | 2 | 0 | 6 |
VUS | 1 | 121 | 6 | 0 | 128 |
Likely Benign | 1 | 10 | 1 | 3 | 15 |
Benign | 1 | 6 | 44 | 3 | 54 |
Conflicting | — | 2 | |||
| Total | 7 | 137 | 90 | 6 | 242 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DSC3 · 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