PKHD1L1

Chr 8AR

PKHD1 like 1

Also known as: DFNB124, PKHDL1

NCBI Gene: 93035ENSG00000205038UniProt: Q86WI1OMIM: 607843

This protein is a component of hair-cell stereocilia coat that is required for normal hearing. Mutations cause autosomal recessive nonsyndromic deafness (DFNB124), affecting the auditory system specifically. The gene shows no constraint against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 1.061 OMIM phenotype
Clinical Summary— PKHD1L1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.06LOEUF
pLI 0.000
Z-score 0.86
OE 0.93 (0.82–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.72Z-score
OE missense 1.04 (1.01–1.08)
2145 obs / 2053.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.93 (0.82–1.06)
0≤0.351.4
Missense OE1.04 (1.01–1.08)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 174 / 186.6Missense obs/exp: 2145 / 2053.3Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PKHD1L1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Integrative analysis of single-cell and transcriptome sequencing with experimental validation reveals PKHD1L1 as a novel biomarker in lung adenocarcinoma.
Zhang X et al.·Sci Rep
2025Open Access
PKHD1L1 is required for stereocilia bundle maintenance, durable hearing function and resilience to noise exposure.
Strelkova OS et al.·Commun Biol
2024Open Access
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE et al.·Hum Genet
2024Open Access
Systematic Multiomic Analysis of PKHD1L1 Gene Expression and Its Role as a Predicting Biomarker for Immune Cell Infiltration in Skin Cutaneous Melanoma and Lung Adenocarcinoma.
Kang JY et al.·Int J Mol Sci
2023Open Access
A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish.
Makrogkikas S et al.·J Neurogenet
2023Functional
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients