peroxisome biogenesis disorder 1A

Summary
Synonym
  • peroxisome biogenesis disorder 1A (Zellweger)
Definition
A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
Super Class
Zellweger syndrome
External Links
Disease Ontology
DOID:0080476
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
2819 GPD1 glycerol-3-phosphate dehydrogenase 1
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1
8309 ACOX2 acyl-CoA oxidase 2
8443 GNPAT glyceronephosphate O-acyltransferase
8540 AGPS alkylglycerone phosphate synthase
51478 HSD17B7 hydroxysteroid 17-beta dehydrogenase 7

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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: August 19, 2024