ASPRV1 Chromosome 2
Aspartic peptidase retroviral like 1
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What This Gene Does
Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"Peptidase family A28 |Retrotransposon derived ASPRV1"
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000244617
Associated Conditions (1)
Autosomal dominant lamellar ichthyosis
Key Variants
RS1678079858
Pathogenic
Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis
Health Risk
RS373824162
Pathogenic
Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis
Health Risk
RS756352033
Pathogenic
Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1678079858 | Health Risk | Pathogenic | Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis |
| RS373824162 | Health Risk | Pathogenic | Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis |
| RS756352033 | Health Risk | Pathogenic | Autosomal dominant lamellar ichthyosis, Autosomal dominant lamellar ichthyosis |