BBS7 Rabbit pAb (APR23926N)

CAT: 0882-APR23926N-01Size: 50 µLDry Ice: NoHazardous: No

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CAT#:0882-APR23926N-01Size:50 µL

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24/48H Stock Items & 2 to 6 Weeks non Stock Items.

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Background

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8 (GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

Overview

We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality BBS7 Rabbit pAb (APR23926N) .

Synonyms

BBS2L1; BBS7

Gene ID

55212

UniProt

Q8IWZ6

Dilution

WB 1:500 - 1:2000 IHC 1:50 - 1:100 IF 1:50 - 1:200

Form

Liquid

Buffer

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Molecular Weight

Calculated MW: 75kDa/80kDa Observed MW: 80kDa

Storage Conditions

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

Gene ID URL

https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55212

Uniprot URL

https://www.uniprot.org/uniprot/Q8IWZ6

AA Sequence

MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYS

UniProtKB · Q8IWZ6

BBSome complex member BBS7

BBS7_HUMAN · Homo sapiens

View on UniProt ↗

Primary accession: Q8IWZ6
Review status: UniProtKB reviewed (Swiss-Prot)
Gene: BBS7
Protein existence: 1: Evidence at protein level
Organism: Homo sapiens (Human)
Taxonomy ID: 9606
Alternative names: —
EC number: —
Processing: —
Secondary accessions: Q4W5P8, Q8N581, Q9NVI4

Protein keywords

PTM

Acetylation

Coding sequence diversity

Alternative splicing

Disease

Bardet-Biedl syndromeCiliopathyDisease variantIntellectual disabilityObesity

Cellular component

Cell membraneCell projectionCiliumCytoplasmCytoskeletonMembrane

Biological process

Cilium biogenesis/degradationProtein transportSensory transductionTransportVision

Technical term

Proteomics identificationReference proteome

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