PEX12

Name

peroxisomal biogenesis factor 12

Type

protein-coding

Position

35,574,795–35,578,863 (−)

Aliases

PAF-3, PBD3A

Ensembl

ENSG00000108733

RefSeq RNA

NM_000286.3

RefSeq protein

NP_000277.1

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].

via MyGene.info

Gene · Ensembl

peroxisomal biogenesis factor 12

Symbol

PEX12

Biotype

Protein coding

Organism

Homo sapiens

Location

17:35,574,795-35,578,863

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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