LOXHD1
Chr 18ARlipoxygenase homology PLAT domains 1
Also known as: DFNB77, LH2D1
The LOXHD1 protein contains PLAT domains that target proteins to the plasma membrane and is required for normal function of mechanosensory hair cells in the inner ear. Mutations cause DFNB77, a progressive form of autosomal recessive nonsyndromic hearing loss. This gene shows low constraint against loss-of-function variants and follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
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
ClinVar Variant Classifications
600 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 | 19 | 0 | 15 | 0 | 34 |
Likely Pathogenic | 17 | 3 | 10 | 0 | 30 |
VUS | 1 | 311 | 24 | 23 | 359 |
Likely Benign | 0 | 1 | 110 | 51 | 162 |
Benign | 0 | 1 | 2 | 0 | 3 |
| Total | 37 | 316 | 161 | 74 | 588 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LOXHD1 · 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