Rhodopsin

2nd extracellular domain of human. Synthetic peptide - KLH conjugated.
Uses: IHC (1 - 3 ug/ml) (Optimal dilution to be determined by the researcher)

Membrane; multi-pass membrane protein.

Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.

Defects in RHO are a cause of autosomal recessive retinitis pigmentosa (ARRP) [MIM:268000].

Belongs to the G-protein coupled receptor 1 family. Opsin subfamily [view classification]. Summary: Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant autosomal recessive or X-linked recessive disorder. In the autosomal dominant form which comprises about 25% of total cases approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which when photoexcited initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [1] Neidhardt J. Barthelmes D. Farahmand F. Fleischhauer J. C. and Berger W. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes[2] Zhang X. L. Liu M. Meng X. H. Fu W. L. Yin Z. Q. Huang J. F. and Zhang X. Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis[3] Galy A. Roux M. J. Sahel J. A. Leveillard T. and Giangrande A. et al. Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa[4] Mendes H. F. van der Spuy J. Chapple J. P. and Cheetham M. E. et al. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy[5] Yuan L. Kawada M. Havlioglu N. Tang H. and Wu J. Y. et al. Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells[6] Nathans J. Hogness D. S. Isolation and nucleotide sequence of the gene encoding human rhodopsin. [7] Suwa M. Sato T. Okouchi I. Arita M. Futami K. Matsumoto S. Tsutsumi S. Aburatani H. Asai K. Akiyama Y. et al. Genome-wide discovery and analysis of human seven transmembrane helix receptor genes. [8] Bennett J. Beller B. Sun D. Kariko K. Submitted (NOV-1994) to the EMBL/GenBank/DDBJ databases. [9] Al-Maghtheh M. Gregory C. Inglehearn C. Hardcastle A. Bhattacharya S. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. [10] Dryja T. P. McGee T. L. Reichei E. Hahn L. B. Cowley G. S. Yandell D. W. Sandberg M. A. Berson E. L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.