ZFIN ID: ZDB-GENE-060929-268
Gene Name: abhydrolase domain containing 12, lysophospholipase
Gene Symbol: abhd12    Nomenclature History

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Previous Name: zgc:153367

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Predicted to have acylglycerol lipase activity and lysophospholipase activity. Involved in myelination; sensory system development; and swimming behavior. Predicted to localize to endoplasmic reticulum membrane and integral component of membrane. Is expressed in gill; gonad; liver; muscle; and nervous system. Used to study PHARC syndrome. Human ortholog(s) of this gene implicated in PHARC syndrome. Orthologous to human ABHD12 (abhydrolase domain containing 12, lysophospholipase).
Genome Resources: Alliance (1),  Gene:767657 (1),  Ensembl(GRCz11):ENSDARG00000071004 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
MO1-abhd12 N/A 1
MO2-abhd12 N/A 1
MO3-abhd12 N/A 1
DISEASE ASSOCIATED WITH abhd12 HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
PHARC syndrome Alliance Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674
DISEASE ASSOCIATED WITH abhd12 VIA EXPERIMENTAL MODELS
Human Disease Fish Conditions Citations
PHARC syndrome WT + MO2-abhd12 standard conditions Tingaud-Sequeira et al., 2017
WT + MO3-abhd12 standard conditions Tingaud-Sequeira et al., 2017
GENE ONTOLOGY
Ontology GO Term
Biological Process anterior lateral line development (more)
Cellular Component endoplasmic reticulum membrane (more)
Molecular Function acylglycerol lipase activity (more)
GO Terms (all 20)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA abhd12-202 (1)    Ensembl 951
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM abhd12 No data available
MARKER RELATIONSHIPS
abhd12 Contained in: [BAC] CH211-67N1 (1), CH211-79L10
abhd12 Encodes: [cDNA] MGC:153367 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001076597 (1) 1796 nt
Genomic GenBank:AL929290 (1) 168517 nt
Select Tool
Polypeptide UniProtKB:Q08C93 (1) 382 aa
Sequence Information (all 17)
ORTHOLOGY for abhd12 ( Chr: 17 )
CITATIONS (21)