PEX11A Chromosome 15

Peroxisomal biogenesis factor 11 alpha
1 variant 1 Health Risk

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What This Gene Does
This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000166821
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS749264393 Health Risk Conflicting classifications of pathogenicity
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