PNPLA1 Chromosome 6
Patatin like domain 1, omega-hydroxyceramide transacylase
Upload your DNA to see your personal genotypes for variants in PNPLA1.
What This Gene Does
The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
Patatin like phospholipase domain containing
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000180316
Associated Conditions (8)
Autosomal recessive congenital ichthyosis 10
Inborn genetic diseases
PNPLA1-related disorder
Lamellar ichthyosis
Congenital ichthyosiform erythroderma
Abnormality of the skin
Ichthyosis
Autosomal recessive congenital ichthyosis
Key Variants
RS1029691431
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 10
Health Risk
RS139173161
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
Health Risk
RS139909055
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 10
Health Risk
RS140585347
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder, Autosomal recessive congenital ichthyosis 10
Health Risk
RS141744967
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
Health Risk
RS148471904
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1561853887
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 10
Health Risk
RS185312959
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder, Autosomal recessive congenital ichthyosis 10
Health Risk
RS201125928
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
Health Risk
RS201231660
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
Health Risk
RS2533200721
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
Health Risk
RS371283191
Conflicting classifications of pathogenicity
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1029691431 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 10 |
| RS139173161 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS139909055 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases, Autosomal recessive congenital ichthyosis 10 |
| RS140585347 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder, Autosomal recessive congenital ichthyosis 10 |
| RS141744967 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS148471904 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1561853887 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 10 |
| RS185312959 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder, Autosomal recessive congenital ichthyosis 10 |
| RS201125928 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS201231660 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS2533200721 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS371283191 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS372072356 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder, Autosomal recessive congenital ichthyosis 10 |
| RS373131816 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS373711651 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS375901638 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS376245108 | Health Risk | Conflicting classifications of pathogenicity | Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma |
| RS561297650 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748310345 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS749816424 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS761075511 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS766215523 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS767322248 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS770164167 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder, Autosomal recessive congenital ichthyosis 10 |
| RS1170446813 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS1373230987 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS2127346823 | Health Risk | Likely pathogenic | Abnormality of the skin, Abnormality of the skin |
| RS746575171 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS766188849 | Health Risk | Likely pathogenic | Congenital ichthyosiform erythroderma, Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 10 |
| RS767462752 | Health Risk | Likely pathogenic | — |
| RS777268917 | Health Risk | Likely pathogenic | Lamellar ichthyosis, Autosomal recessive congenital ichthyosis 10, Lamellar ichthyosis |
| RS922934422 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS938583000 | Health Risk | Likely pathogenic | Lamellar ichthyosis, Lamellar ichthyosis |
| RS1231123861 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma |
| RS1407871103 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma |
| RS1554139129 | Health Risk | Pathogenic | — |
| RS1561853847 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS1561864453 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS1582046125 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Lamellar ichthyosis, Congenital ichthyosiform erythroderma |
| RS1582078740 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma |
| RS1582081682 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma |
| RS1582086407 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS2533200460 | Health Risk | Pathogenic | — |
| RS373148099 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Lamellar ichthyosis, Congenital ichthyosiform erythroderma |
| RS748240234 | Health Risk | Pathogenic | — |
| RS753687060 | Health Risk | Pathogenic | Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma |
| RS778158406 | Health Risk | Pathogenic | — |
| RS1182312612 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10 |
| RS1207879599 | Health Risk | Pathogenic/Likely pathogenic | Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma |
| RS1554138062 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma, Lamellar ichthyosis |