Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.1.1.64 extracted from

  • Chen, Y.; Moiseyev, G.; Takahashi, Y.; Ma, J.X.
    Impacts of two point mutations of RPE65 from Lebers congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65 (2006), FEBS Lett., 580, 4200-4204.
    View publication on PubMed
Search for more literature for 3.1.1.64

Protein Variants

Protein Variants Comment Organism
P363T the mutation is identified in patients with Leber's congenital amaurosis, significantly decreases the stability of the enzyme, alters subcellular localization mainly to the plasma membrane and abolishes its isomerohydrolase activity Homo sapiens
Y144D the mutation is identified in patients with Leber's congenital amaurosis, significantly decreases the stability of the enzyme, alters subcellular localization mainly to the plasma membrane and abolishes its isomerohydrolase activity Homo sapiens

General Stability

General Stability Organism
RPE65 is a relatively stable protein with a half-life longer than 10 h in the presence of cycloheximide Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
 Homo sapiens 5783
-
plasma membrane
-
 Homo sapiens 5886
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
QBI-293A cell
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
Rpe65
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction RPE65 mutations are associated with inherited retinal dystrophies Homo sapiens