RCC1-like domain and ORF15: essentials in RPGR gene.
Clinical research into mutations of the RPGR gene showed that lack of either the RCC1-like domain of the ORF15 causes X-linked retinitis pigmentosa. Thus, the ORF15 and RCC1-like domain play a crucial role in the human retina. Further sudies on the role of the RCC1-like domain in the visual Cascade and additional findings of related proteins in the retina or even other organs, will give us a more precise understanding of this protein.
Jin
Zi-Bing
ZB
Department of Ophthalmology, Miyazaki Medical College, University of Miyazaki, Japan
Hayakawa
Mutsuko
M
Murakami
Akira
A
Nao-i
Nobuhisa
N
D000483:Alleles; D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics* / Q000502:physiology*; D008040:Genetic Linkage; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D016366:Open Reading Frames; D017434:Protein Structure, Tertiary; D012160:Retina / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics*
D018797:Cell Cycle Proteins; D005136:Eye Proteins; D020662:Guanine Nucleotide Exchange Factors; D009687:Nuclear Proteins; C062521:RCC1 protein, human; C099929:RPGR protein, human