Application | Comment | Organism |
---|---|---|
medicine | in a patient with a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11), filaggrin expression is almost absent in the skin | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Danio rerio | - |
- |
- |
Homo sapiens | - |
- |
- |
Mus musculus | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
epidermis | - |
Mus musculus | - |
epidermis | - |
Homo sapiens | - |
epidermis | - |
Danio rerio | - |
hair follicle | of normal skin | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
Capn12 | - |
Mus musculus |
Capn12 | - |
Homo sapiens |
Capn12 | - |
Danio rerio |
General Information | Comment | Organism |
---|---|---|
physiological function | knockdown of CAPN12 in three-dimensional human skin models is associated with acanthosis, disorganized epidermal architecture, and downregulation of several differentiation markers, including filaggrin | Homo sapiens |
physiological function | RNA knockdown of calpain 12 in skin from K14-H2B GFP mice leads to significant hair follicle catagen transformation compared with controls | Mus musculus |
physiological function | the downregulation of Capn12 expression in zebrafish is associated with abnormal epidermal morphogenesis | Danio rerio |