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Gene : ABHD5 Homo sapiens

Name  ? abhydrolase domain containing 5 Cytological Location  3p21.33
Brief Description  abhydrolase domain containing 5
description  The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000133039,
  • ABHD5,
  • CGI58,
  • HGNC:21396,
  • IECN2,
  • uc003cmx.4,
  • NM_016006,
  • AF007132,
  • NCIE2,
  • NCIE2,
  • CGI-58
  • identifiers:
  • 51099,
  • ENSG00000011198,
  • ABHD5

Genome feature

Region: gene ? Length: 43502  
Location: 3:43690870-43734371 Cyto location: 3p21.33


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

154 SN Ps

5 Cross References

18 Data Sets

11 Homologues

0 Located Features

90 Rna Seq Results