C3ORF52
Chr 3ARchromosome 3 open reading frame 52
Also known as: HYPT15, TTMP
This protein facilitates LIPH-mediated synthesis of 2-acyl lysophosphatidic acid (LPA), a bioactive lipid mediator necessary for hair formation and growth. Mutations cause hypotrichosis 15, an autosomal recessive condition characterized by sparse hair development. The gene shows low constraint to loss-of-function variation (pLI 0.00009, LOEUF 1.8), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C3ORF52 · 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