PKHD1L1 Chromosome 8
PKHD1 like 1
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What This Gene Does
Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"IPT domain containing|Cupredoxin superfamily"
Locus Type
gene with protein product
Location
8q23.1-q23.2
Ensembl
ENSG00000205038
Associated Conditions (1)
Autosomal recessive nonsyndromic hearing loss 124
Key Variants
RS200149971
Pathogenic
Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
Health Risk
RS61745556
Pathogenic
Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
Health Risk
RS746243573
Pathogenic
Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
Health Risk
RS767753360
Pathogenic
Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
Health Risk
RS773702657
Pathogenic
Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200149971 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124 |
| RS61745556 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124 |
| RS746243573 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124 |
| RS767753360 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124 |
| RS773702657 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 124, Autosomal recessive nonsyndromic hearing loss 124 |