Aldehyde dehydrogenase 7 family, member A1, also known as ALDH7A1 or antiquitin, is an enzyme that in humans is encoded by the ALDH7A1 gene. [5] The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family.

2024年12月24日 · ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH7A1 include Epilepsy, Early-Onset, 4, Vitamin B6-Dependent and Hydrocephalus, Congenital, 1 .

关于 aldh7a1 Cytogenetic location: 5q23.2 Genomic coordinates (GRCh38): 5:126,541,841-126,595,219 (from NCBI) This gene has 37 transcripts (splice variants), 205 orthologues, 17 paralogues and is associated with 3 phenotypes.

2010年6月11日 · Proposed role of ALDH7A1 in the cell. ALDH7A1 protects cells and tissues from osmotic stress through the synthesis of the protective osmolyte betaine from betaine aldehyde. Furthermore, ALDH7A1 can directly metabolize a wide range of reactive aldehydes produced during lipid peroxidation, which potentiate oxidative stress within the cell.

2025年2月9日 · Mutations in the ALDH7A1 gene encoding alpha-amino-adipic semialdehyde (alpha-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE. Wild-type ALDH7A1 is shown to exist in a dimer-tetramer equilibrium with a dissociation constant of 16 muM.

aldh7a1 在赖氨酸分解代谢中编码 α-氨基己二酸半醛脱氢酶。 我们研究了人类 PDE-ALDH7A1 及其敲除 aldh7a1 斑马鱼模型中的 γ 氨基丁酸 (GABA) 代谢和能量产生途径。

ALDH7A1基因是人类基因组中的一种编码酮酸脱氢酶（Aldehyde dehydrogenase）的基因。 该基因位于人类染色体 5q23.2-q23.3 区域，编码一种酶，通常被称为α-氨基丁酸脱氢酶（Alpha-aminoadipic semialdehyde dehydrogenase），简称为AASA酶。

2024年12月10日 · Title: ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis. Results suggest the NAD+ cofactor of aldehyde dehydrogenase 7 family member A1 protein (ALDH7A1) dramatically enhances tetramerization of the enzyme.

The ALDH7A1 gene provides instructions for making an enzyme called α-aminoadipic semialdehyde (α-AASA) dehydrogenase, also known as antiquitin. Within the cell, antiquitin is found in the internal fluid of the cell (cytosol) and in the nucleus.

aldh7a1. 基因产物：乙醛脱氢酶7家庭成员A1（α-氨基己二酸半醛脱氢酶）。 蛋白功能：在赖氨酸分解代谢过程中，该酶可将α-氨基己二酸半醛（α-alas）转换为α-氨基己二酸。该酶失活可导致α-alas累积，由于哌啶6磷酸盐（p6c）和α-alas在体内处于动态平衡状态，α ...