🧬 基因注释：COX6B1

官方名称：cytochrome c oxidase subunit 6B1

功能摘要：Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010].

• RBFOX2 综合评分: 0.444 · 证据 2 条
• Srsf3 综合评分: 0.424 · 证据 1 条
• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• PTBP1 综合评分: 0.362 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• Tardbp 综合评分: 0.336 · 证据 1 条
• PCBP2 综合评分: 0.324 · 证据 1 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• RBM10 综合评分: 0.312 · 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
• SRSF3 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• Rbmx 综合评分: 0.274 · 证据 1 条
• PCBP1 综合评分: 0.262 · 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
• CPSF6 综合评分: 0.212 · 证据 2 条
• Srsf4 综合评分: 0.212 · 证据 1 条

该基因暂无关联疾病记录