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Protein Coding Gene : Abhd12 abhydrolase domain containing 12

Primary Identifier  MGI:1923442 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  76192
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables lysophospholipase activity; monoacylglycerol lipase activity; and palmitoyl-(protein) hydrolase activity. Involved in lipid catabolic process; protein depalmitoylation; and regulation of inflammatory response. Acts upstream of or within adult walking behavior; phosphatidylserine catabolic process; and response to auditory stimulus. Located in dendrite cytoplasm and endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neurological symptoms of neurodegeneration, hearing loss, ataxia, microgliosis and reduced brain lysophosphatidylserine lipase activity. [provided by MGI curators]
  • synonyms:
  • AI431047,
  • MGI:2138943,
  • expressed sequence AI431047,
  • 6330583M11Rik,
  • MGI:2139377,
  • MGI:1916235,
  • 1500011G07Rik,
  • RIKEN cDNA 6330583M11 gene,
  • expressed sequence AW547313,
  • abhydrolase domain containing 12,
  • AW547313,
  • RIKEN cDNA 1500011G07 gene,
  • Abhd12

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Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

8 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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0 Driver For