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Immunogen sequence: TQFPVSTESQ KPRQKKAPEF PILEKQNWLI HLHYIRKDYE ACKAVIKEQL QETQGLCEYA IYVQALIFRL EGNIQESL
Highest antigen sequence identity to the following orthologs: Mouse - 92%, Rat - 91%.
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 protein; BBSome complex member BBS4
基因别名: BBS4
UniProt ID: (Human) Q96RK4
Entrez Gene ID: (Human) 585