abhydrolase domain containing 12, lysophospholipase

Summary
Gene Symbol
  • ABHD12
Aliases
  • ABHD12A
  • BEM46L2
  • DKFZP434P106
  • dJ965G21.2
Organism
Homo sapiens (human)
NCBI Gene
26090
HGNC
15868
PubChem
26090
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cataract
  • Deafness
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Hydrolase
  • Lipid metabolism
  • Neuropathy
  • Reference proteome
  • Retinitis pigmentosa
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8N2K0
  • 2-arachidonoylglycerol hydrolase ABHD12
  • Abhydrolase domain-containing protein 12
  • Monoacylglycerol lipase ABHD12
  • Oxidized phosphatidylserine lipase ABHD12
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0080181 PHARC syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 27 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000407 Sensorineural hearing impairment
HP:0000510 Rod-cone dystrophy
HP:0000518 Cataract
HP:0000523 Subcapsular cataract
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000762 Decreased nerve conduction velocity
HP:0001251 Ataxia
HP:0001257 Spasticity
Displaying 1 entry
Disease ID Disease Name
OMIM:612674
  • PHARC syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025