Gene: PADI3

Alternate names for this Gene: PAD3|PDI3|UHS1

Gene Summary: This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.13

Description of this Gene: peptidyl arginine deiminase 3

Type of Gene: protein-coding

rs139426141 in PADI3 gene and Central centrifugal cicatricial alopecia PMID 30763140 2019 Variant PADI3 in Central Centrifugal Cicatricial Alopecia.

rs3003429 in PADI3 gene and Forced expiratory volume function PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

rs11203346 in PADI3 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs3003429 in PADI3 gene and Respiratory Function Tests PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

rs142129409 in PADI3 gene and UNCOMBABLE HAIR SYNDROME 1 PMID 27866708 2016 Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.