protein XRP2 (RP2, retinitis pigmentosa 2, X-linked)
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Function
- stimulates the GTPase activity of tubulin
- does not enhance tubulin heterodimerization
- acts as guanine nucleotide dissociation inhibitor for ARL3
- interacts with the activated, GTP-bound form of ARL3
- myristoylated on Gly-1 (plasma membrane targeting)
- palmitoylated on Cys-2 (plasma membrane targeting)
Compartment
cell membrane, lipid-anchor, cytoplasmic side
Expression
ubiquitous (at protein level)
Pathology
- mutation of Cys-2 targets the protein to internal membranes
- defects in RP2 are the cause of retinitis pigmentosa 2
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O75695.html
- ↑ Mutations of the RP2 gene; Retina International's Scientific Newsletter http://www.retina-international.com/sci-news/rp2mut.htm
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RP2