🧬 基因注释：BBS4

官方名称：Bardet-Biedl syndrome 4

功能摘要：This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].

• HNRNPC 综合评分: 0.510 · 证据 2 条
• HNRNPM 综合评分: 0.448 · 证据 2 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• Tardbp 综合评分: 0.294 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• EWSR1 综合评分: 0.250 · 证据 2 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• U2af1 综合评分: 0.212 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• Ptbp2 综合评分: 0.200 · 证据 1 条
• AQR 综合评分: 0.150 · 证据 1 条
• CPSF4 综合评分: 0.150 · 证据 2 条
• CPSF7 综合评分: 0.150 · 证据 2 条

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