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GENE AND PROTEIN SUMMARY

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Gene name

PEX7

Description

peroxisomal biogenesis factor 7

Protein class

Mapped to UniProt SWISS-PROT, Transporters

Protein evidence

Medium

Entrez gene summary

This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one 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 have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
0 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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Show image »

Staining summary

Most normal cells displayed weak to moderate cytoplasmic positivity. Stomach, heart and skeletal muscle cells were strongly stained. The liver, placenta, breast, prostate, hematopoietic cells, smooth muscle cells and soft tissues were negative.

Tissue specificity

Staining in 54 out of 81 cell types

Reliability (Single)

Antibodies in assay

HPA049202
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 73% of the cancers

Antibodies in assay

HPA049202
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA049202

 

A-431 Skin Low

-

A-549 Lung Low

-

CACO-2 Colon Low

-

HEK 293 Embryonal kidney Medium

-

HeLa Cervix Low

-

Hep-G2 Liver Low

-

MCF-7 Pleural effusion Medium

-

PC-3 Bone marrow Low

-

RT-4 Urinary bladder Low

-

U-2 OS Bone Low

-

U-251 MG Brain Low

-

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA049202 pAb