peroxisomal biogenesis factor 19
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Diagnostic Grade (Green)
Adult onset leukodystrophy
BIALLELIC, autosomal or pseudoautosomalArthrogryposis
BIALLELIC, autosomal or pseudoautosomalBilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal+10 more panels — install the extension to see the full list inline on any page.
Zellweger syndrome
peroxisome biogenesis disorder 12A (Zellweger)
peroxisome biogenesis disorder
peroxisomal disease
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
neurodegenerative disease
Zellweger spectrum disorders
hereditary disease
peroxisome biogenesis disorder due to PEX19 defect
dengue disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Peroxisomal biogenesis factor 19
Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53
PEX19 · P40855
Mean pLDDT
70.6/ 100
Confident
299 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
