PEX10

Chr 1

peroxisomal biogenesis factor 10

Also known as: NALD, PBD6A, PBD6B, RNF69

NCBI Gene: 5192ENSG00000157911UniProt: O60683

This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPeroxisome biogenesis disorder complementation group 7
UniProtPeroxisome biogenesis disorder 6A
UniProtPeroxisome biogenesis disorder 6B

Clinical highlights

Gene-disease validity (ClinGen)
peroxisome biogenesis disorder · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.86
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — PEX10
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.001
Z-score 1.99
OE 0.48 (0.28–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.29Z-score
OE missense 1.06 (0.95–1.18)
229 obs / 216.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.48 (0.28–0.86)
0≤0.351.4
Missense OE?1.06 (0.95–1.18)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 8 / 16.8Missense obs/exp: 229 / 216.8Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PEX10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients