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GENE AND PROTEIN SUMMARY

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Gene name

PEX12

Description

peroxisomal biogenesis factor 12

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

Medium

Entrez 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, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
2 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Low

-

-

A-549 Lung Medium

-

-

CACO-2 Colon Low

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-

HEK 293 Embryonal kidney Medium

-

-

HeLa Cervix Low

-

-

Hep-G2 Liver Low

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-

MCF-7 Pleural effusion Low

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-

PC-3 Bone marrow Medium

-

-

RT-4 Urinary bladder Low

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-

U-2 OS Bone Low

-

-

U-251 MG Brain Low

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-

ANTIBODY SUMMARY

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Pending antibodies