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BBS1

Anti-BBS1 Products

Hi-Affi™ Rabbit Anti-BBS1 Recombinant Antibody (clone DS332AB) (MOR-0332)
- Derivation: Phage display library screening
- Species Reactivity: Mouse, Rat, Human
- Type: Rabbit IgG
- Application: WB, IF
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For Research Use Only. Not For Clinical Use.

Background

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.

Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Astrocytes, Microglial cells, Oligodendrocyte precursor cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1 (PubMed:24939912).

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