PEX14

Chr 1p36.22

peroxisomal biogenesis factor 14

MANE:: ENST00000356607.9

OMIM: 601791 ↗NCBI: 5195 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PEX14 · O75381

v62025-08-01

Predicted Aligned Error matrix for PEX14 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.9/ 100

Low

377 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)12%
Low(50–70)27%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

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
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Zellweger syndrome
0.77
peroxisome biogenesis disorder 13A (Zellweger)
0.74
peroxisome biogenesis disorder, complementation group K
0.66
peroxisome biogenesis disorder
0.60
peroxisomal disease
0.60
Peroxisome biogenesis disorder-Zellweger syndrome spectrum
0.60
neurodegenerative disease
0.45
breast carcinoma
0.44
prostate carcinoma
0.41
asthma
0.40

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

Protein function (UniProt)

Peroxisomal membrane protein PEX14

Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:24235149, PubMed:28765278, 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:24235149, PubMed:28765278). Plays a key role for peroxisome movement through a direct interaction with tubulin (PubMed:21525035)