DLAT (dihydrolipoamide S-acetyltransferase)
- symbol:
- DLAT
- locus group:
- protein-coding gene
- location:
- 11q23.1
- gene_family:
- alias symbol:
- PDC-E2|E2
- alias name:
- E2 component of pyruvate dehydroge…
- entrez id:
- 1737
- ensembl gene id:
- ENSG00000150768
- ucsc gene id:
- uc001pmo.4
- refseq accession:
- NM_001931
- hgnc_id:
- HGNC:2896
- approved reserved:
- 1989-06-30
DLAT（二氢硫辛酰胺乙酰转移酶）是线粒体丙酮酸脱氢酶复合体（PDC）的核心组成部分，属于2-氧酸脱氢酶复合体家族。该基因位于11号染色体上，编码的蛋白在糖代谢中起关键作用，负责将丙酮酸转化为乙酰辅酶A进入三羧酸循环。DLAT蛋白含有硫辛酰结合域，通过转移乙酰基到辅酶A来连接糖酵解与能量产生。其功能异常会导致丙酮酸脱氢酶复合体缺乏症，表现为乳酸酸中毒、神经退行性变和发育迟缓。突变如R302C可破坏蛋白稳定性，而E326K则影响酶活性。DLAT过表达可能增强能量代谢，但异常高表达与某些癌症进展相关；表达降低则导致能量代谢障碍。该基因与阿尔茨海默病、糖尿病和多种癌症存在关联，其表达水平可能成为代谢紊乱疾病的生物标志物。2-氧酸脱氢酶家族成员均含E1、E2和E3亚基，参与不同代谢途径的氧化脱羧反应。
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
该基因编码的多酶丙酮酸脱氢酶复合体（PDC）的E2组分。 PDC驻留在线粒体内膜和催化丙酮酸转化为乙酰辅酶A.这个基因，二氢硫辛酰胺乙酰转移酶的蛋白质产物，接受由丙酮酸并将它们传送到辅酶A.二氢硫乙酰转移酶氧化脱羧形成乙酰基是抗原为抗线粒体抗体。这些自身抗体存在于近95％的患者的自身免疫性肝病原发性胆汁性肝硬化（PBC）。在中国人民银行，激活的T淋巴细胞的攻击和摧毁在胆管上皮细胞的地方这种蛋白质异常分布与过度表达。 PBC enventually导致肝硬化和肝功能衰竭。在这个基因的突变也丙酮酸脱氢酶缺乏E2的原因导致主乳酸性酸中毒在婴儿期和幼儿期。[由RefSeq的，2009年10月提供]
基因本体信息
DLAT基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
DLAT基因的本体（GO）信息：
| 名称 |
|---|
| 1200 Carbon metabolism [PATH:hsa01200] |
| 10 Glycolysis / Gluconeogenesis [PATH:hsa00010] |
| 20 Citrate cycle (TCA cycle) [PATH:hsa00020] |
| 620 Pyruvate metabolism [PATH:hsa00620] |
| 名称 |
|---|
| Cell redox homeostasis |
| Disease |
| Infectious disease |
| Latent infection of Homo sapiens with Mycobacterium tuberculosis |
| Metabolism |
| Pyruvate metabolism |
| Pyruvate metabolism and Citric Acid (TCA) cycle |
| Regulation of pyruvate dehydrogenase (PDH) complex |
| Response of Mtb to phagocytosis |
| Signal Transduction |
| Signaling by Retinoic Acid |
| The citric acid (TCA) cycle and respiratory electron transport |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Pyruvate Dehydrogenase E2 Deficiency | 0.36 | 0 | 0 | CLINVAR_CTD_human_ORPHANET |
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
| Sleep Deprivation | 0.08 | 1 | 0 | RGD |
| Primary biliary cirrhosis | 0.009771907 | 36 | 0 | BeFree |
| Biliary cirrhosis | 0.0054487 | 2 | 0 | LHGDN |
| Chorioamnionitis | 0.002367032 | 1 | 0 | GAD |
| Pre-Eclampsia | 0.002367032 | 1 | 0 | GAD |
| Fetal Membranes, Premature Rupture | 0.002367032 | 1 | 0 | GAD |
| Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | 0.002367032 | 1 | 0 | GAD |
| Premature Birth | 0.002367032 | 1 | 0 | GAD |
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