PADI3 Chromosome 1
Peptidyl arginine deiminase 3
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Peptidyl arginine deiminases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000142619
Associated Conditions (4)
Central centrifugal cicatricial alopecia
Uncombable hair syndrome 1
PADI3-related disorder
Inborn genetic diseases
Key Variants
RS139426141
Conflicting classifications of pathogenicity
Central centrifugal cicatricial alopecia, Uncombable hair syndrome 1, Central centrifugal cicatricial alopecia
Health Risk
RS144080386
Conflicting classifications of pathogenicity
Uncombable hair syndrome 1, PADI3-related disorder, Uncombable hair syndrome 1
Health Risk
RS34097903
Conflicting classifications of pathogenicity
Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
Health Risk
RS199615967
Likely pathogenic
Health Risk
RS139876092
Pathogenic
Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
Health Risk
RS1437225536
Pathogenic
Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
Health Risk
RS144944758
Pathogenic
Uncombable hair syndrome 1, Uncombable hair syndrome 1
Health Risk
RS1557508308
Pathogenic
Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia
Health Risk
RS140482516
Pathogenic/Likely pathogenic
Central centrifugal cicatricial alopecia, Uncombable hair syndrome 1, Central centrifugal cicatricial alopecia
Health Risk
RS142129409
Pathogenic/Likely pathogenic
Uncombable hair syndrome 1, PADI3-related disorder, Inborn genetic diseases
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139426141 | Health Risk | Conflicting classifications of pathogenicity | Central centrifugal cicatricial alopecia, Uncombable hair syndrome 1, Central centrifugal cicatricial alopecia |
| RS144080386 | Health Risk | Conflicting classifications of pathogenicity | Uncombable hair syndrome 1, PADI3-related disorder, Uncombable hair syndrome 1 |
| RS34097903 | Health Risk | Conflicting classifications of pathogenicity | Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia |
| RS199615967 | Health Risk | Likely pathogenic | — |
| RS139876092 | Health Risk | Pathogenic | Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia |
| RS1437225536 | Health Risk | Pathogenic | Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia |
| RS144944758 | Health Risk | Pathogenic | Uncombable hair syndrome 1, Uncombable hair syndrome 1 |
| RS1557508308 | Health Risk | Pathogenic | Central centrifugal cicatricial alopecia, Central centrifugal cicatricial alopecia |
| RS140482516 | Health Risk | Pathogenic/Likely pathogenic | Central centrifugal cicatricial alopecia, Uncombable hair syndrome 1, Central centrifugal cicatricial alopecia |
| RS142129409 | Health Risk | Pathogenic/Likely pathogenic | Uncombable hair syndrome 1, PADI3-related disorder, Inborn genetic diseases |