PADI1
Description
The PADI1 (peptidyl arginine deiminase 1) is a protein-coding gene located on chromosome 1.
Peptidyl arginine deiminase, type I, also known as PADI1, is a protein encoded by the PADI1 gene in humans. This gene belongs to the peptidyl arginine deiminase enzyme family, which catalyzes the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. Each family member has distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, maintaining hydration of the stratum corneum and thus the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. The PADI1 gene exists in a cluster with four other paralogous genes.
PADI1 is also known as HPAD10, PAD1, PDI, PDI1.
Associated Diseases
- hypoparathyroidism, familial isolated, 2
- cancer
- pseudohypoparathyroidism type 2
- nonpapillary renal cell carcinoma
- COVID-19
