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PEX13

Chr 2p15

peroxisomal biogenesis factor 13

MANE:
ENST00000295030.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset leukodystrophy

    BIALLELIC, autosomal or pseudoautosomal
  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal hydrops

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited white matter disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Zellweger syndrome

    0.81
  • peroxisome biogenesis disorder 11A (Zellweger)

    0.79
  • peroxisome biogenesis disorder 11B

    0.77
  • Zellweger spectrum disorders

    0.69
  • peroxisome biogenesis disorder

    0.69
  • peroxisomal disease

    0.62
  • Peroxisome biogenesis disorder-Zellweger syndrome spectrum

    0.62
  • neurodegenerative disease

    0.48
  • lysosomal storage disease

    0.40
  • peroxisome biogenesis disorder 2B

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Peroxisomal membrane protein PEX13

Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:28765278, PubMed:8858165, PubMed:9653144). The PEX13-PEX14 docking complex forms a large import pore which can be opened to a diameter of about 9 nm (By similarity). Mechanistically, PEX5 receptor along with cargo proteins associates with the PEX14 subunit of the PEX13-PEX14 docking complex in the cytosol, leading to the insertion of the receptor into the organelle membrane with the concomitant translocation of the cargo into the peroxisome matrix (PubMed:28765278, PubMed:8858165, PubMed:9653144). Involved in the import of PTS1- and PTS2-type containing proteins (PubMed:8858165, PubMed:9653144)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.