DefinitionThis section has been translated automatically.
HRNR (Hornerin) is a protein coding gene located on chromosome 1q21.3. Diseases associated with HRNR include:
Ichthyosis Vulgaris
Spastic paraplegia 47, Autosomal recessive
Atopic Dermatitis: A single nucleotide polymorphism within the gene has recently been linked to susceptibility to atopic dermatitis (AD) (Henry J et al 2011).
Associated pathways include the innate immune system.
General informationThis section has been translated automatically.
The encoded HRNR protein shares the same characteristics as filaggrin, a key protein for keratinocyte differentiation. HRNR is a component of the cornified cell envelopes of the human epidermis. Its decreased expression in AD may contribute to the epidermal barrier defect observed in the disease. HRNR is a substrate of transglutaminase 3.
LiteratureThis section has been translated automatically.
- Arias-Pérez RD et al (2021) Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes. BMC Med Genomics 14:140.
- Henry J et al (2011) Hornerin is a component of the epidermal cornified cell envelopes. FASEB J 25:1567-1576.
