Product name : C2orf71 3\'UTR Lenti-reporter-GFP Virus
Catalog number : MV-h52212
Supplier : ABM microrna
Price : 1515 EUR
Size : 3 ml
Concept : Scope note: The in vitro fusion of GENES by RECOMBINANT DNA techniques to analyze protein behavior or GENE EXPRESSION REGULATION, or to merge protein functions for specific medical or industrial uses.
Entrez Gene : chromosome 2 open reading frame 71 (C2orf71)
Gene ontology - Biological process : visual perception response to stimulus photoreceptor cell outer segment organization protein localization to photoreceptor outer segment
Gene ontology - Cellular component : cilium photoreceptor outer segment photoreceptor inner segment
InterPro : Retinal protein C2orf71
Long gene name :
Name : Artificial Gene Fusion
PubMed : Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa. Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported. C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection. Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort. A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa.
Qualifiers : drug effects, methods, radiation effects
Tree numbers : E05.393.220.250