LHFPL5
Chr 6ARLHFPL tetraspan subfamily member 5
Also known as: DFNB67, TMHS, dJ510O8.8
LHFPL5 encodes an auxiliary subunit of the mechanotransducer channel complex at cochlear hair cell stereocilia tips that mediates auditory sensory transduction by functionally coupling PCDH15 to the transduction channel. Mutations cause autosomal recessive deafness (DFNB67), typically presenting as congenital or early-onset sensorineural hearing loss affecting the auditory system.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LHFPL5 · 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