Pex12 Gene Search Result

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2 records found for search term Pex12

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
731687	PEX12	peroxisomal biogenesis factor 12	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 peroxi ... (more) some 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]	17	35574795	35578571	Human	295	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
5129248	PEX12P1	peroxisomal biogenesis factor 12 pseudogene 1		13	89991344	89992897	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]