ABHD12 Chromosome 20
Abhydrolase domain containing 12, lysophospholipase
Upload your DNA to see your personal genotypes for variants in ABHD12.
What This Gene Does
This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"Abhydrolase domain containing|2-arachidonoylglycerol hydrolases"
Locus Type
gene with protein product
Location
20p11.21
Ensembl
ENSG00000100997
Associated Conditions (8)
ABHD12-related disorder
PHARC syndrome
Retinal dystrophy
Cone dystrophy
Inborn genetic diseases
Optic atrophy
Syndromic retinitis pigmentosa
See cases
Key Variants
RS1261172926
Conflicting classifications of pathogenicity
Health Risk
RS139135254
Conflicting classifications of pathogenicity
ABHD12-related disorder, ABHD12-related disorder
Health Risk
RS146028040
Conflicting classifications of pathogenicity
ABHD12-related disorder, ABHD12-related disorder
Health Risk
RS146195280
Conflicting classifications of pathogenicity
PHARC syndrome, PHARC syndrome
Health Risk
RS147070618
Conflicting classifications of pathogenicity
Health Risk
RS186440319
Conflicting classifications of pathogenicity
PHARC syndrome, PHARC syndrome
Health Risk
RS188888939
Conflicting classifications of pathogenicity
PHARC syndrome, PHARC syndrome
Health Risk
RS202150912
Conflicting classifications of pathogenicity
Health Risk
RS369626505
Conflicting classifications of pathogenicity
PHARC syndrome, PHARC syndrome
Health Risk
RS371418239
Conflicting classifications of pathogenicity
PHARC syndrome, ABHD12-related disorder, PHARC syndrome
Health Risk
RS372807311
Conflicting classifications of pathogenicity
PHARC syndrome, PHARC syndrome
Health Risk
RS373200654
Conflicting classifications of pathogenicity
PHARC syndrome, PHARC syndrome
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1261172926 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139135254 | Health Risk | Conflicting classifications of pathogenicity | ABHD12-related disorder, ABHD12-related disorder |
| RS146028040 | Health Risk | Conflicting classifications of pathogenicity | ABHD12-related disorder, ABHD12-related disorder |
| RS146195280 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS147070618 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS186440319 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS188888939 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS202150912 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369626505 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS371418239 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, ABHD12-related disorder, PHARC syndrome |
| RS372807311 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS373200654 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS375299452 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, ABHD12-related disorder, PHARC syndrome |
| RS376242128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377339443 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS41306784 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, ABHD12-related disorder, Retinal dystrophy |
| RS565270893 | Health Risk | Conflicting classifications of pathogenicity | ABHD12-related disorder, ABHD12-related disorder |
| RS572997548 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS575339393 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS587777604 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, Cone dystrophy, PHARC syndrome |
| RS745990956 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS746196586 | Health Risk | Conflicting classifications of pathogenicity | ABHD12-related disorder, ABHD12-related disorder |
| RS749409983 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ABHD12-related disorder, Optic atrophy |
| RS754258279 | Health Risk | Conflicting classifications of pathogenicity | Syndromic retinitis pigmentosa, Syndromic retinitis pigmentosa |
| RS756648434 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS768757901 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772862920 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777592249 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS911558545 | Health Risk | Conflicting classifications of pathogenicity | PHARC syndrome, PHARC syndrome |
| RS1285567657 | Health Risk | Likely pathogenic | — |
| RS1300228825 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1418915670 | Health Risk | Likely pathogenic | — |
| RS1437025228 | Health Risk | Likely pathogenic | — |
| RS1555810299 | Health Risk | Likely pathogenic | PHARC syndrome, PHARC syndrome |
| RS1555811525 | Health Risk | Likely pathogenic | Retinal dystrophy, PHARC syndrome, Retinal dystrophy |
| RS201317014 | Health Risk | Likely pathogenic | — |
| RS2088652401 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2089115544 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2145920950 | Health Risk | Likely pathogenic | — |
| RS2515767848 | Health Risk | Likely pathogenic | PHARC syndrome, PHARC syndrome |
| RS2515770212 | Health Risk | Likely pathogenic | — |
| RS752254456 | Health Risk | Likely pathogenic | — |
| RS886039872 | Health Risk | Likely pathogenic | PHARC syndrome, PHARC syndrome |
| RS1303044966 | Health Risk | Pathogenic | PHARC syndrome, PHARC syndrome |
| RS1555813914 | Health Risk | Pathogenic | PHARC syndrome, PHARC syndrome |
| RS1555817157 | Health Risk | Pathogenic | PHARC syndrome, PHARC syndrome |
| RS1568725951 | Health Risk | Pathogenic | Cone dystrophy, Cone dystrophy |
| RS1600823029 | Health Risk | Pathogenic | — |
| RS200536497 | Health Risk | Pathogenic | — |
| RS2089421415 | Health Risk | Pathogenic | — |