ID   PBD005
AC   CVCL_VQ71
DR   Wikidata; Q98128485
RX   PubMed=7719337;
RX   PubMed=9668159;
CC   Sequence variation: Mutation; HGNC; HGNC:9719; PEX5; Simple; p.Arg427Ter (c.1279C>T) (R390*); ClinVar=VCV000009144; Zygosity=Homozygous (PubMed=7719337).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C155750; Peroxisome biogenesis disorder 2A
DI   ORDO; Orphanet_79189; Peroxisome biogenesis disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 8
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RX   PubMed=7719337; DOI=10.1038/ng0295-115;
RA   Dodt G., Braverman N., Wong C., Moser A., Moser H.W., Watkins P.,
RA   Valle D.L., Gould S.J.;
RT   "Mutations in the PTS1 receptor gene, PXR1, define complementation
RT   group 2 of the peroxisome biogenesis disorders.";
RL   Nat. Genet. 9:115-125(1995).
//
RX   PubMed=9668159; DOI=10.1093/hmg/7.8.1195;
RA   Braverman N., Dodt G., Gould S.J., Valle D.L.;
RT   "An isoform of pex5p, the human PTS1 receptor, is required for the
RT   import of PTS2 proteins into peroxisomes.";
RL   Hum. Mol. Genet. 7:1195-1205(1998).
//