Gene: ABHD12

Alternate names for this Gene: ABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2|hABHD12

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.21

Description of this Gene: abhydrolase domain containing 12, lysophospholipase

Type of Gene: protein-coding

rs746748 in ABHD12 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7267979 in ABHD12 gene and Alkaline phosphatase measurement PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

rs1555817157 in ABHD12 gene and Cerebellar Dysmetria PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Cerebellar atrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Congenital pes cavus PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Decreased tendon reflex PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Distal sensory impairment PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Dysarthria PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs2236180 in ABHD12 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs1555817157 in ABHD12 gene and Hyperreflexia PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Intention tremor PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs2297497 in ABHD12 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs1555817157 in ABHD12 gene and Nystagmus PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Optic Atrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Polyneuropathy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

PMID 27890673 2017 Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.

PMID 25743180 2015 Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

PMID 24027063 2013 Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

PMID 20797687 2010 Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

PMID 22938382 2012 Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

PMID 24697911 2014 Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

rs758316679 in ABHD12 gene and Retinal Dystrophies PMID 22938382 2012 Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

rs1555817157 in ABHD12 gene and Sensorimotor neuropathy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Sensorineural Hearing Loss (disorder) PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and Subcapsular cataract PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs1555817157 in ABHD12 gene and obsolete Rod-cone dystrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs2236180 in ABHD12 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.