Product name : C2orf71 3\'UTR Lenti-reporter-GFP Vector
Catalog number : MT-h52212
Supplier : ABM microrna
Price : 1231 EUR
Size : 1 ug
Concept : Scope note: The transfer of bacterial DNA by phages from an infected bacterium to another bacterium. This also refers to the transfer of genes into eukaryotic cells by viruses. This naturally occurring process is routinely employed as a GENE TRANSFER TECHNIQUE.
Entrez Gene : chromosome 2 open reading frame 71 (C2orf71)
Gene :
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 : Transduction, Genetic
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 : classification, economics, history, instrumentation, methods, standards, trends, utilization, veterinary, statistics & numerical data, ethics
Tree numbers : E05.393.350.800
