3billion
back to listBack to List

PEX5

peroxisomal biogenesis factor 5

HCNC Approved Symbol
PEX5 (HGNC:9719)
Genomic Coordinates
12:7,188,653 - 7,218,574 (12p13.31)
Synonyms
PTS1R, PXR1
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Peroxisome biogenesis disorder 2A (Zellweger)
214110AR
Peroxisome biogenesis disorder 2B
202370AR
Rhizomelic chondrodysplasia punctata, type 5
616716AR

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the PEX5 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results