What is the official name of the PEX12 gene?
The official name of this gene is “peroxisomal biogenesis factor 12.”
PEX12 is the gene's official symbol. The PEX12 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PEX12 gene?
- From Entrez Gene:
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
- From UniProt:
Required for protein import into peroxisomes.
How are changes in the PEX12 gene related to health conditions?
- Genetics Home Reference provides information about Zellweger spectrum, which is associated with changes in the PEX12 gene.
- UniProt provides the following information about the PEX12 gene's known or predicted involvement in human disease.
Peroxisome biogenesis disorder complementation group 3 (PBD-CG3): A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by mutations affecting the gene represented in this entry.
Peroxisome biogenesis disorder 3A (PBD3A): A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. Note=The disease is caused by mutations affecting the gene represented in this entry.
Peroxisome biogenesis disorder 3B (PBD3B): A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PEX12 gene.
- Peroxisome biogenesis disorder 3A
- UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the PEX12 gene located?
Cytogenetic Location: 17q12
Molecular Location on chromosome 17: base pairs 33,901,813 to 33,905,655
The PEX12 gene is located on the long (q) arm of chromosome 17 at position 12.
More precisely, the PEX12 gene is located from base pair 33,901,813 to base pair 33,905,655 on chromosome 17.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PEX12?
You and your healthcare professional may find the following resources about PEX12 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the PEX12 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PEX12?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.