PLS1 Chromosome 3
Plastin 1
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What This Gene Does
Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"EF-hand domain containing|Plastin family"
Locus Type
gene with protein product
Location
3q23
Ensembl
ENSG00000120756
Associated Conditions (9)
Inborn genetic diseases
PLS1-related disorder
Hereditary hearing loss and deafness
Hearing loss
autosomal dominant 76
Autosomal dominant nonsyndromic hearing loss
Hearing impairment
Autosomal dominant nonsyndromic hearing impairment
Bilateral sensorineural hearing impairment
Key Variants
RS146967957
Conflicting classifications of pathogenicity
Inborn genetic diseases, PLS1-related disorder, Inborn genetic diseases
Health Risk
RS1577888985
Conflicting classifications of pathogenicity
Hereditary hearing loss and deafness, Hearing loss, autosomal dominant 76
Health Risk
RS1560070780
Likely pathogenic
Hearing impairment, Hearing loss, autosomal dominant 76
Health Risk
RS1577876794
Likely pathogenic
Hearing loss, autosomal dominant 76, Autosomal dominant nonsyndromic hearing loss
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146967957 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PLS1-related disorder, Inborn genetic diseases |
| RS1577888985 | Health Risk | Conflicting classifications of pathogenicity | Hereditary hearing loss and deafness, Hearing loss, autosomal dominant 76 |
| RS1560070780 | Health Risk | Likely pathogenic | Hearing impairment, Hearing loss, autosomal dominant 76 |
| RS1577876794 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 76, Autosomal dominant nonsyndromic hearing loss |