Viral Details

Viral Backbone

Recombinant AAV

AAV-ITR

AAV2

AAV Serotype

Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids

Promoter

CMV (default), or choose from 30 different ubiquitous or cell specific promoter

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

PBS/5% Glycerol

Gene Details

Species

Human

Gene Symbol

BBS4

Gene Name

Bardet-Biedl syndrome 4

Gene ID

585

ORF Size

1560 bp

RefSeq#

BC027624

Gene Description

BBS4 is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.

UniGene ID

Hs.208681

HGNC ID

HGNC:969