Tbio PEX12 Peroxisome assembly protein 12

Protein Summary

Description

Required for protein import into peroxisomes. 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]

Uniprot Accession IDs

• O00623
• B2R6M2

Gene Name

• PEX12

Ensembl ID

• ENST00000225873
• ENSP00000225873
• ENSG00000108733
• ENST00000613219
• ENSP00000482609

Symbol

• PAF3
• PAF-3
• PBD3A

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.9
transcription factor binding site profile	0.85
cellular component	0.71
transcription factor perturbation	0.68
phenotype	0.64

Protein Classes

PANTHER Classes

Protein / Transfer/carrier Protein / Peroxisome Assembly Protein 12

DTO Classes

Protein / Transporter / Peroxisome Assembly Protein 12

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 41.52   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 112   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 41.52   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 112   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0