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FLASH GENE
Symbol CARD14 contributors: mct - updated : 16-06-2021
HGNC name caspase recruitment domain family, member 14
HGNC id 16446
ASSOCIATED DISORDERS
corresponding disease(s) PRP
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
after a triggering event that can include epidermal injury, rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes, a cycle which is the hallmark of psoriasis
constitutional germinal mutation     loss of function
associated with a severe variant of Atopic dermatitis (AD)
Susceptibility
  • to Psoriasis (see PSORS2)
  • to inflammatory skin disease
  • to CARD14-associated papulosquamous eruption
  • Variant & Polymorphism other
  • rs11652075 (p.Arg820Trp), and c.599G>A (p.Ser200Asn) were associated with psoriasis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS