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Invitrogen
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Peptide sequence: LGIYQKAFEH LGNALTYDPT NYKAILAAGS MMQTHGDFDV ALTKYRVVAC
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 93%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 79%
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