PADI6 Chromosome 1
Peptidyl arginine deiminase 6
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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. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
Peptidyl arginine deiminases
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000276747
Associated Conditions (3)
Inborn genetic diseases
Preimplantation embryonic lethality 2
PADI6-related disorder
Key Variants
RS200488264
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372065243
Conflicting classifications of pathogenicity
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS759006424
Conflicting classifications of pathogenicity
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS1048529437
Likely pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS1057517684
Likely pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS1275178104
Likely pathogenic
PADI6-related disorder, PADI6-related disorder
Health Risk
RS1464076815
Likely pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS2100320097
Likely pathogenic
Health Risk
RS755260464
Likely pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS766402946
Likely pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS1057517681
Pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
RS1057517682
Pathogenic
Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200488264 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372065243 | Health Risk | Conflicting classifications of pathogenicity | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS759006424 | Health Risk | Conflicting classifications of pathogenicity | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1048529437 | Health Risk | Likely pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1057517684 | Health Risk | Likely pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1275178104 | Health Risk | Likely pathogenic | PADI6-related disorder, PADI6-related disorder |
| RS1464076815 | Health Risk | Likely pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS2100320097 | Health Risk | Likely pathogenic | — |
| RS755260464 | Health Risk | Likely pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS766402946 | Health Risk | Likely pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1057517681 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1057517682 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1057517683 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS1275059440 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS2100280270 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS2100297230 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS2100316317 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS2100332594 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |
| RS775156958 | Health Risk | Pathogenic | Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2 |