HRNR Gene

Last updated on: 11.08.2022

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Definition
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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 information
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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.

Literature
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  1. 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.
  2. Henry J et al (2011) Hornerin is a component of the epidermal cornified cell envelopes. FASEB J 25:1567-1576.

Incoming links (1)

Keratosis pilaris;

Last updated on: 11.08.2022