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Hereditary nasal parakeratosis (HNPK) is an inherited monogenic autosomal recessive skin disorder.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Hereditary nasal parakeratosis (HNPK) is an inherited monogenic autosomal recessive skin disorder. The disease causes crusts and fissures on the nasal planum of Labrador Retrievers. The disorder is caused by a mutation in the SUV39H2 gene. The mutation involves by the epigenetic regulation of keratinocyte differentiation, which ensures stratification and tight sealing of the mammalian epidermis.
Clinical features
Clinical symptoms are restricted to the epidermes of the nasal planum. As it is currently unclear why a defect in the histone modifying enzyme leads to the tissue-specific phenotype.
Additional information
This test is performed by an external laboratory. CombiBreed takes care of the mediation between you as a customer and the external laboratory. In this case, CombiBreed cannot be held liable for the behaviour of the client and/or contractor.
References
Pubmed ID: 24098150
Omia ID: 1373
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