UQCC4基因｜基因功能、疾病关联、突变与基因编辑研究
UQCC4是线粒体呼吸链复合体III组装的关键因子，其突变可能导致线粒体功能障碍。
基因信息卡
| 基因符号 | UQCC4 |
|---|---|
| 基因全名 | ubiquinol-cytochrome c reductase complex assembly factor 4 |
| 基因类型 | protein-coding |
| 染色体位置 | 3q13.2 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 暂无可靠数据 |
| HGNC ID | HGNC:37234 |
| 基因别名 | C3orf75, MGC26717 |
基因功能与研究简介
UQCC4（ubiquinol-cytochrome c reductase complex assembly factor 4）编码线粒体呼吸链复合体III（细胞色素bc1复合物）的组装因子。该蛋白参与复合体III的组装和稳定，对线粒体电子传递链的正常功能至关重要。UQCC4的突变可能导致复合体III缺陷，进而引发线粒体疾病。目前，关于UQCC4在疾病中的具体作用仍在研究中。
疾病关联
| 疾病类别 | 疾病生理机制 | 基因组证据 |
|---|---|---|
| 暂无明确疾病关联 | 暂无明确致病机制 | 暂无可靠数据 |
表达谱
组织表达
| 组织 | nTPM | 级别 |
|---|---|---|
| 心脏 | 暂无可靠数据 | 暂无可靠数据 |
| 骨骼肌 | 暂无可靠数据 | 暂无可靠数据 |
| 肝脏 | 暂无可靠数据 | 暂无可靠数据 |
细胞系表达
| 细胞系 | nTPM | 笔记 |
|---|---|---|
| HEK293 | 暂无可靠数据 | 暂无可靠数据 |
| HeLa | 暂无可靠数据 | 暂无可靠数据 |
数据来源：Human Protein Atlas（proteinatlas.org）
突变与遗传变异
Hotspot Mutations
| 变体 | 类型 | 频率 | 功能描述 |
|---|---|---|---|
| 暂无明确致病突变 | 暂无可靠数据 | 暂无可靠数据 | 暂无可靠数据 |
突变功能分类
Loss of Function（功能缺失，LOF）
功能缺失型突变可能导致复合体III组装缺陷，影响线粒体呼吸功能。
Gain of Function（功能获得，GOF）
暂无明确证据。
Dominant Negative（显性负效应，DN）
暂无明确证据。
查看完整突变数据：
基因本体论 (Gene Ontology)
| • GO:0005747 (mitochondrial respiratory chain complex III) | • GO:0005759 (mitochondrial matrix) |
| • GO:0008137 (NADH dehydrogenase (ubiquinone) activity) | • GO:0045252 (ubiquinol-cytochrome-c reductase activity) |
相关通路
• hsa00190 (Oxidative phosphorylation)
• hsa05010 (Alzheimer's disease)
• hsa05012 (Parkinson's disease)
• hsa05014 (Amyotrophic lateral sclerosis)
• hsa05016 (Huntington's disease)
• hsa05020 (Prion disease)
• hsa05022 (Pathways of neurodegeneration - multiple diseases)
• hsa05031 (Amphetamine addiction)
• hsa05032 (Morphine addiction)
• hsa05034 (Alcoholism)
• hsa04714 (Thermogenesis)
• hsa04260 (Cardiac muscle contraction)
• hsa04932 (Non-alcoholic fatty liver disease)
• hsa04936 (Alcoholic liver disease)
• hsa04974 (Protein digestion and absorption)
• hsa05165 (Human papillomavirus infection)
• hsa05166 (Human T-cell leukemia virus 1 infection)
• hsa05167 (Kaposi sarcoma-associated herpesvirus infection)
• hsa05168 (Herpes simplex virus 1 infection)
• hsa05169 (Epstein-Barr virus infection)
• hsa05170 (Human immunodeficiency virus 1 infection)
• hsa05171 (Coronavirus disease - COVID-19)
• hsa05163 (Human cytomegalovirus infection)
• hsa05164 (Influenza A)
• hsa05161 (Hepatitis B)
• hsa05160 (Hepatitis C)
• hsa05162 (Measles)
• hsa05152 (Tuberculosis)
• hsa05145 (Toxoplasmosis)
• hsa05144 (Malaria)
• hsa05143 (African trypanosomiasis)
• hsa05142 (Chagas disease)
• hsa05140 (Leishmaniasis)
• hsa05133 (Pertussis)
• hsa05132 (Salmonella infection)
• hsa05131 (Shigellosis)
• hsa05130 (Pathogenic Escherichia coli infection)
• hsa05134 (Legionellosis)
• hsa05135 (Yersinia infection)
• hsa05120 (Epithelial cell signaling in Helicobacter pylori infection)
• hsa05110 (Vibrio cholerae infection)
• hsa05100 (Bacterial invasion of epithelial cells)
• hsa05010 (Alzheimer's disease)
• hsa05012 (Parkinson's disease)
• hsa05014 (Amyotrophic lateral sclerosis)
• hsa05016 (Huntington's disease)
• hsa05020 (Prion disease)
• hsa05022 (Pathways of neurodegeneration - multiple diseases)
• hsa05031 (Amphetamine addiction)
• hsa05032 (Morphine addiction)
• hsa05034 (Alcoholism)
• hsa04714 (Thermogenesis)
• hsa04260 (Cardiac muscle contraction)
• hsa04932 (Non-alcoholic fatty liver disease)
• hsa04936 (Alcoholic liver disease)
• hsa04974 (Protein digestion and absorption)
• hsa05165 (Human papillomavirus infection)
• hsa05166 (Human T-cell leukemia virus 1 infection)
• hsa05167 (Kaposi sarcoma-associated herpesvirus infection)
• hsa05168 (Herpes simplex virus 1 infection)
• hsa05169 (Epstein-Barr virus infection)
• hsa05170 (Human immunodeficiency virus 1 infection)
• hsa05171 (Coronavirus disease - COVID-19)
• hsa05163 (Human cytomegalovirus infection)
• hsa05164 (Influenza A)
• hsa05161 (Hepatitis B)
• hsa05160 (Hepatitis C)
• hsa05162 (Measles)
• hsa05152 (Tuberculosis)
• hsa05145 (Toxoplasmosis)
• hsa05144 (Malaria)
• hsa05143 (African trypanosomiasis)
• hsa05142 (Chagas disease)
• hsa05140 (Leishmaniasis)
• hsa05133 (Pertussis)
• hsa05132 (Salmonella infection)
• hsa05131 (Shigellosis)
• hsa05130 (Pathogenic Escherichia coli infection)
• hsa05134 (Legionellosis)
• hsa05135 (Yersinia infection)
• hsa05120 (Epithelial cell signaling in Helicobacter pylori infection)
• hsa05110 (Vibrio cholerae infection)
• hsa05100 (Bacterial invasion of epithelial cells)
蛋白质功能简介
UQCC4蛋白是线粒体呼吸链复合体III的组装因子，参与复合体III的组装和稳定。该蛋白可能通过与复合体III亚基或其他组装因子相互作用，确保复合体III的正确组装和功能。UQCC4的突变可能导致复合体III缺陷，进而影响线粒体呼吸功能，但具体的致病机制仍需进一步研究。
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