C2ORF71-HA Adenovirus (Human)

Product name : C2ORF71-HA Adenovirus (Human)

Catalog number : 074011A

Supplier : abm Adinovirus

Price : 862 EUR

Size : 250ul

More about:

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