PEX14

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq]

peroxisomal biogenesis factor 14

Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.

Microtubule anchoringManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of DNA-binding transcription factor activityManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of protein bindingManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Peroxisome organizationISS:UniProtKB
Peroxisome transport along microtubuleManual Assertion Based On ExperimentIDA:UniProtKB
Protein import into peroxisome matrixManual Assertion Based On ExperimentIMP:UniProtKB
Protein import into peroxisome matrix, dockingManual Assertion Based On ExperimentIBA:GO_Central
Protein import into peroxisome matrix, substrate releaseManual Assertion Based On ExperimentIDA:UniProtKB
Protein import into peroxisome matrix, translocationManual Assertion Based On ExperimentIDA:UniProtKB
Protein-containing complex assemblyManual Assertion Based On ExperimentIDA:UniProtKB

Peroxisome membrane

Peroxisome biogenesis disorder complementation group K (PBD-CGK):
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Peroxisome biogenesis disorder 13A (PBD13A):
A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.