ABHD5 Chromosome 3
Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Upload your DNA to see your personal genotypes for variants in ABHD5.
What This Gene Does
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Abhydrolase domain containing
Locus Type
gene with protein product
Location
3p21.33
Ensembl
ENSG00000011198
Associated Conditions (5)
Triglyceride storage disease with ichthyosis
ABHD5-related disorder
Inborn genetic diseases
Sarcoma
Ovarian serous cystadenocarcinoma
Key Variants
RS138400599
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS144420157
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, ABHD5-related disorder, Inborn genetic diseases
Health Risk
RS183345998
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS372889561
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS375012502
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS377718797
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS537368660
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS746970260
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS753853386
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
Health Risk
RS767197048
Conflicting classifications of pathogenicity
Triglyceride storage disease with ichthyosis, ABHD5-related disorder, Triglyceride storage disease with ichthyosis
Health Risk
RS774821089
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2528725105
Likely pathogenic
ABHD5-related disorder, ABHD5-related disorder
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138400599 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS144420157 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, ABHD5-related disorder, Inborn genetic diseases |
| RS183345998 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS372889561 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS375012502 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS377718797 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS537368660 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS746970260 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS753853386 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS767197048 | Health Risk | Conflicting classifications of pathogenicity | Triglyceride storage disease with ichthyosis, ABHD5-related disorder, Triglyceride storage disease with ichthyosis |
| RS774821089 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2528725105 | Health Risk | Likely pathogenic | ABHD5-related disorder, ABHD5-related disorder |
| RS2528785092 | Health Risk | Likely pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS2528785565 | Health Risk | Likely pathogenic | — |
| RS528321695 | Health Risk | Likely pathogenic | — |
| RS767648866 | Health Risk | Likely pathogenic | — |
| RS894423675 | Health Risk | Likely pathogenic | — |
| RS104893675 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS1288452350 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS138876970 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS1553614642 | Health Risk | Pathogenic | — |
| RS1553616447 | Health Risk | Pathogenic | — |
| RS1575600969 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS1575607298 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS2084784131 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS2528737257 | Health Risk | Pathogenic | — |
| RS2528785198 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS28939077 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS28939078 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS367740710 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS387906335 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS387906336 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS752473449 | Health Risk | Pathogenic | — |
| RS761087968 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS773892644 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS908673218 | Health Risk | Pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS370301465 | Health Risk | Pathogenic/Likely pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS754573124 | Health Risk | Pathogenic/Likely pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |
| RS762662276 | Health Risk | Pathogenic/Likely pathogenic | Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis |