LP208426-9

PEX7 gene

Active

Description

The PEX7 gene (peroxisomal biogenesis factor 7) [HGNC Gene ID:8860] is located on chromosome 6q23.3. 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] [NCBI Gene ID:5191] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name

PEX7 gene

Part Display Name

PEX7 gene

Part Type

Component (Describes the core component or analyte measured)

Created On

2016-03-17

Construct for LOINC Short Name

PEX7

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