LHFPL5 encodes LHFPL tetraspan subfamily member 5 (219 aa). Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of the shorter stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. Highest expression in Pancreas (3.0 TPM) and Brain Frontal Cortex BA9 (1.5 TPM).

Autosomal recessive nonsyndromic hearing loss 67 is associated with mutations in the LHFPL5 gene on chromosome 6.

The LHFPL5 protein participates in Mechanoelectrical transduction (MET) channel transports cations from the extracellular region into the cytosol of stereocilia of inner hair cell, Mechanoelectrical transduction (MET) channel transports cations into the cytosol of stereocilia of cochlear outer hair cell, and Sensory processing of sound by inner hair cells of the cochlea pathways.

LHFPL5 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for LHFPL5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 67 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for autosomal recessive nonsyndromic hearing loss 67.

14 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 67. Research spans Diagnostic / Biomarker (29%), Review / Meta-Analysis (29%), and Basic Science / Preclinical (21%).

Recent Publications

• Valle VA (2026). [PMID: 42158840](https://pubmed.ncbi.nlm.nih.gov/42158840/). *JIMD Rep*. [Case Report / Case Series]

• Guan RR (2026). [PMID: 41521852](https://pubmed.ncbi.nlm.nih.gov/41521852/). *Otolaryngol Head Neck Surg*. [Basic Science / Preclinical]

• Balatková Z (2026). [PMID: 41884524](https://pubmed.ncbi.nlm.nih.gov/41884524/). *Otol Neurotol Open*. [Epidemiology / Natural History]

• Huynh BC (2026). [PMID: 41845931](https://pubmed.ncbi.nlm.nih.gov/41845931/). *Ophthalmic Genet*. [Basic Science / Preclinical]

• Shokouhian E (2026). [PMID: 39847269](https://pubmed.ncbi.nlm.nih.gov/39847269/). *J Appl Genet*. [Review / Meta-Analysis]

• Theunis M (2026). [PMID: 41126390](https://pubmed.ncbi.nlm.nih.gov/41126390/). *Ophthalmic Genet*. [Review / Meta-Analysis]

• Abati E (2026). [PMID: 42089726](https://pubmed.ncbi.nlm.nih.gov/42089726/). *J Neuromuscul Dis*. [Review / Meta-Analysis]

• Wu L (2026). [PMID: 41895920](https://pubmed.ncbi.nlm.nih.gov/41895920/). *J Mol Diagn*. [Diagnostic / Biomarker]

• Cromar ZJ (2025). [PMID: 40533831](https://pubmed.ncbi.nlm.nih.gov/40533831/). *Hum Genomics*. [Diagnostic / Biomarker]

• Colbert BM (2025). [PMID: 39560289](https://pubmed.ncbi.nlm.nih.gov/39560289/). *Laryngoscope*. [Basic Science / Preclinical]