1 sources retrieved · Most recent: April 2026 · Index updated 16 days ago
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12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
axonemecytoplasmautosomal recessive nonsyndromic hearing loss 63hearing loss, autosomal recessiveRare genetic deafnessdeafness
Based on limited published evidence, LRRC51 is a leucine-rich repeat protein associated with axoneme structure and function. In rodents, LRRC51 exists as a separate gene that fused with TOMT in the primate lineage to form LRTOMT 1. While the precise function of LRRC51 itself remains unclear, its evolutionary fusion with a methyltransferase-encoding gene and association with deafness when mutated suggests a role in sensory cell function, particularly in inner ear sound transduction mechanisms.
1
LRRC51 is a rodent gene that fused with TOMT in primates to form LRTOMT; LRTOMT mutations cause nonsyndromic hearing loss (DFNB63)
PMID: 18953341⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
autosomal recessive nonsyndromic hearing loss 63Open Targets
hearing loss, autosomal recessiveOpen Targets
Rare genetic deafnessOpen Targets
age-related macular degenerationOpen Targets
X-linked retinal dysplasiaOpen Targets
Familial exudative vitreoretinopathyOpen Targets
attention deficit hyperactivity disorderOpen Targets
autism spectrum disorderOpen Targets
retinitis pigmentosaOpen Targets
Intellectual disability - hypotonia - spasticity - sleep disorderOpen Targets
severe early-childhood-onset retinal dystrophyOpen Targets
Stargardt diseaseOpen Targets
intellectual disability, autosomal dominant 50Open Targets
reticular dystrophy of the retinal pigment epitheliumOpen Targets
FRAXE intellectual disabilityOpen Targets
hereditary attention deficit-hyperactivity disorderOpen Targets
Tourette syndromeOpen Targets
No pathogenic variants reported on ClinVar for this gene.