Entrez gene ID | | 5193 |
Official gene symbol | | PEX12 |
Full name | | peroxisomal biogenesis factor 12 |
Aliases | | ,PAF-3, |
Gene summary | | 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] |
Location | | Chromosome: 17 Locus: 17q12 |
Gene position | | 33905656 - 33901814 Map Viewer |
Gene orientation | | minus |
Gene size | | 3843 bp |
Gene sequence |
| |
OMIM ID | | 601758 |