🧬 基因注释：KATNIP

官方名称：katanin interacting protein

功能摘要：This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPL 综合评分: 0.398 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• fus 综合评分: 0.300 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• RBM10 综合评分: 0.250 · 证据 2 条
• RBM15 综合评分: 0.250 · 证据 2 条
• TIA1 综合评分: 0.250 · 证据 1 条
• Tardbp 综合评分: 0.212 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• SF3A3 综合评分: 0.200 · 证据 1 条
• CSTF2T 综合评分: 0.162 · 证据 2 条
• Rbpms 综合评分: 0.162 · 证据 1 条

该基因暂无关联疾病记录