The relationship between PEX11A and Peroxisome Biogenesis Disorder, an autosomal recessive disorder, was evaluated using the ClinGen Clinical Validity Framework as of May, 2020. PEX11A is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation.
PEX11A has not been reported in relation to human disease, to the best of our knowledge. Minimal evidence supporting the role of this gene in disease is available from experimental data.
Summary of experimental data (1 point): Since PEX11A has not been implicated in human disease, no mouse models that recapitulate a phenotype are reported. At least three Pex11a knock-out mouse models are reported, one of which is noted to show no external phenotypes or peroxisome defects (PMID: 12417726). Two other models by Weng et al (PMID: 23169785, PMID: 25113963) show the Pex11a deficiency may lead to alterations in peroxisome abundance, function and variability in expression of genes involved in fatty acid oxidation. The authors suggest that these are models for steatosis and hypertension/albuminuria.
In summary, no convincing evidence for a causal role for PEX11A in autosomal recessive peroxisome biogenesis disorder has been reported. Although there is minimal evidence from animal models to support the role of PEX11A in disease, no reports have directly implicated the gene in humans. (SOP Version 7).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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