Peroxisome Biogenesis Factor 7

Alternative Names

  • OEX7
  • Peroxin 7
  • Peroxisomal PTS2 Receptor
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OMIM Number

601757

NCBI Gene ID

5191

Uniprot ID

O00628

Length

91,715 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Peroxisomal targeting signal 2 receptor

Molecular Mass

35892 Da

Amino Acid Count

323

Genomic Location

chr6:136,822,220-136,913,934

Gene Map Locus
6q23.3

Description

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). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000288.4:c.875T>ALebanonchr6:136898213PathogenicPathogenicRhizomelic Chondrodysplasia Punctata, Type 1NG_008462.1:g.80634T>A; NM_000288.4:c.875T>A; NP_000279.1:p.Leu292Ter18051377780
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