BAIT

PEX7

PBD9B, PTS2R, RCDP1, RD, RP11-55K22.6
peroxisomal biogenesis factor 7
GO Process (3)
GO Function (3)
GO Component (3)
Homo sapiens

Two-hybrid

Bait protein expressed as a DNA binding domain (DBD) fusion and prey expressed as a transcriptional activation domain (TAD) fusion and interaction measured by reporter gene activation.

Publication

Identification of PAHX, a Refsum disease gene.

Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ

Refsum disease is an autosomal recessive disorder characterized by retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia and increased cerebrospinal fluid protein. Biochemically, the disorder is defined by two related properties: pronounced accumulation of phytanic acid and selective loss of the peroxisomal dioxygenase required for alpha-hydroxylation of phytanoyl-CoA2. Decreased phytanic-acid oxidation is also observed in human cells lacking PEX7, the receptor for ... [more]

Nat. Genet. Oct. 01, 1997; 17(2);185-9 [Pubmed: 9326939]

Throughput

  • Low Throughput

Curated By

  • BioGRID