🧬 基因注释：PANK2

官方名称：pantothenate kinase 2

功能摘要：This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008].

• HNRNPC 综合评分: 0.556 · 证据 2 条
• HNRNPL 综合评分: 0.424 · 证据 2 条
• PTBP1 综合评分: 0.424 · 证据 2 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• QKI 综合评分: 0.412 · 证据 1 条
• SRSF9 综合评分: 0.398 · 证据 1 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPH1 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
• MATR3 综合评分: 0.324 · 证据 1 条
• RBM10 综合评分: 0.312 · 证据 2 条
• RBM15 综合评分: 0.312 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• HNRNPK 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
• SRSF2 综合评分: 0.300 · 证据 1 条

该基因暂无关联疾病记录