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Gene : AGPS Homo sapiens

Name  ? alkylglycerone phosphate synthase Cytological Location  2q31.2
Brief Description  alkylglycerone phosphate synthase
description  This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ADAP-S,
  • ADPS,
  • NM_003659,
  • HGNC:327,
  • ADAS,
  • ADHAPS,
  • uc002ull.3,
  • ADPS,
  • ADAS,
  • AGPS,
  • ALDHPSY,
  • ADHAPS,
  • ADAP-S,
  • ALDHPSY,
  • Y09443,
  • RCDP3,
  • OTTHUMG00000132530
  • identifiers:
  • 8540,
  • ENSG00000018510,
  • AGPS

Genome feature

Region: gene ? Length: 151094  
Location: 2:177392743-177543836 Cyto location: 2q31.2


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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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]

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Expression

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

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Other

2011 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results