Product name : C2ORF71-HA Adenovirus (Human)
Catalog number : 074011A
Supplier : abm Adinovirus
Price : 862 EUR
Size : 250ul
Discovery year : 2008-07-07
Entrez Gene : chromosome 2 open reading frame 71 (C2orf71)
Entrez gene record : 388939
Gene : 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
Havana BLAST/BLAT : OTTHUMG00000152024
Identity : 34383
InterPro : Retinal protein C2orf71
Locus : 2p23.2
Locus Specific Databases : Eye Diseases - LOVD
Long gene name : chromosome 2 open reading frame 71
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.
Pubmed identfication : 20398886
RefSeq identity : NM_001029883
Synonyms : FLJ34931 RP54
