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Description
BBS4 contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in the gene encoding this protein have been observed in patients with Bardet-Biedl syndrome type 4. BBS4 may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.
Specifications
Specifications
| Antigen | BBS4 |
| Applications | Immunocytochemistry, Western Blot, Immunofluorescence, Immunohistochemistry (Paraffin) |
| Classification | Polyclonal |
| Concentration | 0.14 mg/mL |
| Conjugate | Unconjugated |
| Formulation | PBS with 50% glycerol and 0.02% sodium azide; pH 7.3 |
| Gene | BBS4 |
| Gene Accession No. | Q8C1Z7, Q96RK4 |
| Gene Alias | Bardet Biedl syndrome 4, BBS4 |
| Gene Symbols | BBS4 |
| Show More |
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