Mutations of the ACAT1 gene are associated with a deficiency in the encoded protein mitochondrial acetoacetyl-CoA thiolase (T2); this is also known as Beta-ketothiolase deficiency. Many mutations have been identified in specific populations, and large scale studies have been performed to determine the allelic and genotypic frequency for the ...

2024年12月24日 · ACAT1 (Acetyl-CoA Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ACAT1 include Alpha-Methylacetoacetic Aciduria and Disorder Of Keton Body Transport. Among its related pathways are Ketone body metabolism and superpathway of cholesterol biosynthesis.

2019年9月1日 · Acetoacetyl-CoA thiolase also known as acetyl-CoA acetyltransferase (ACAT) corresponds to two enzymes, one cytosolic (ACAT2) and one mitochondrial (ACAT1), which is thought to catalyse reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA during ketogenesis and ketolysis respectiv …

2025年2月8日 · ACAT1, ACACA, ALDH6A1 and MTHFD1 represent novel biomarkers in adipose tissue associated with type 2 diabetes in obese individuals. these findings indicate that ACAT1 expression could serve as a potential prognostic marker in prostate cancer, specifically in differentiating indolent and aggressive forms of cancer.

预计在脂肪酸代谢过程的上游或内部起作用。位于线粒体内膜。在大脑中表达；胚胎;心;肝;和后肾。该基因的人类直系同源物与 β-酮硫解酶缺乏症和碳水化合物代谢紊乱有关。与人类 acat1（乙酰辅酶 a 乙酰转移酶 1）同源。 [由基因组资源联盟提供，2022 年 4 月]

该基因的缺陷与 3-酮硫解酶缺乏症有关，这是异亮氨酸分解代谢的先天性错误，其特征是 2-甲基-3-羟基丁酸、2-甲基乙酰乙酸、二甘氨酸和丁酮从尿中排泄。 [RefSeq 提供，2009 年 2 月] This gene encodes a mitochondrially localized Enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA.

Active ACAT1 is a tetrameric enzyme in ketogenesis that converts two acetyl-CoA molecules to acetoacetyl-CoA and CoA (Balasse and Féry, 1989; Haapalainen et al., 2006, 2007). We reported ACAT1 as a mitochondrial protein acetyltransferase, and, most importantly, stable knockdown of ACAT1 attenuates tumor growth (Fan et al., 2014). However, how ...

2019年9月1日 · Important recent studies identified the new function of ACAT1 and described how ACAT1 contributes to cancer biology by acting upstream of PDC to regulate its activity. In addition to its role in ketogenic pathway, isoleucine degradation and ketolysis, ACAT1 has also been recently reported to play roles in anti-cancer drug resistance, cancer ...

The ACAT1 gene provides instructions for making an enzyme that is found in the energy-producing centers within cells (mitochondria). This enzyme plays an essential role in breaking down proteins and fats from the diet. Specifically, it helps process isoleucine, an amino acid that is a building block of many proteins.

2019年10月25日 · ACAT1 is present in all body cells and is the major isoenzyme in macrophages. Whether blocking ACAT1 benefits atherosclerosis has been under debate for more than a decade. Previously, our laboratory developed a myeloid-specific Acat1 knockout (KO) mouse (Acat1-M/-M), devoid of ACAT1 only