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Adding 0.2 mL of distilled water will yield a concentration of 500 µg/mL.
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized.
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 8 protein; Bardet-Biedl syndrome 8 protein homolog; Bardet-Biedl syndrome type 8; Tetratricopeptide repeat protein 8; TPR repeat protein 8
基因别名: 0610012F22Rik; AV001447; BBS8; RP51; TTC8
UniProt ID: (Human) Q8TAM2, (Mouse) Q8VD72
Entrez Gene ID: (Human) 123016, (Rat) 299246, (Mouse) 76260