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Antibody detects endogenous levels of total BBS4.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Bardet-Biedl syndrome 4 homolog; Bardet-Biedl syndrome 4 protein; Bardet-Biedl syndrome 4 protein homolog; BBSome complex member BBS4
基因别名: AW537059; AW742241; BBS4; D9Ertd464e
UniProt ID: (Human) Q96RK4, (Mouse) Q5EBJ7
Entrez Gene ID: (Human) 585, (Mouse) 102774, (Rat) 300754