BBS7
Bardet-Biedl syndrome 7
Synonimy:
BBS2L1
Gatunek:
Human BBS7 (55212), Mouse Bbs7 (71492), Rat Bbs7 (361930), Zebrafish bbs7 (557491), cow BBS7 (100138953), chicken BBS7 (771481), dog BBS7 (476092), domestic guinea pig Bbs7 (100717774), naked mole-rat Bbs7 (101718716), sheep BBS7 (101107867) ...Więcej
Identyfikator UniProtKB:
Identyfikator genu:
- Human(55212) Summary: This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. 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, Feb 2011]
- Mouse(71492) Bardet-Biedl syndrome 7 (human)
- Rat(361930) Bardet-Biedl syndrome 7
- Zebrafish(557491) Bardet-Biedl syndrome 7
- cow(100138953) Bardet-Biedl syndrome 7
- chicken(771481) Bardet-Biedl syndrome 7
- dog(476092) Bardet-Biedl syndrome 7
- domestic guinea pig(100717774) Bardet-Biedl syndrome 7
- naked mole-rat(101718716) Bardet-Biedl syndrome 7
- sheep(101107867) Bardet-Biedl syndrome 7
- Horse(100063923) Bardet-Biedl syndrome 7
- domestic cat(101088159) Bardet-Biedl syndrome 7
- Domestic Rabbit(100356131) Bardet-Biedl syndrome 7
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Antibodies
Numer produktu
Opis
Reaktywność gatunkowa
Zastosowanie
Monoclonal Anti-BBS7 antibody produced in mouse, clone 2H6, purified immunoglobulin, buffered aqueous solution,
Reaktywność gatunkowa
human
Zastosowanie
ELISA
western blot
western blot
Anti-BBS7 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reaktywność gatunkowa
human
Zastosowanie
immunohistochemistry
western blot
western blot
Anti-BBS7 antibody produced in rabbit, purified immunoglobulin, buffered aqueous solution,
Reaktywność gatunkowa
human, mouse
Zastosowanie
western blot