| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ALDH18A1 |
| Uniprot No | P54886 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-795aa |
| 氨基酸序列 | MLSQVYRCGFQPFNQHLLPWVKCTTVFRSHCIQPSVIRHVRSWSNIPFITVPLSRTHGKSFAHRSELKHAKRIVVKLGSAVVTRGDECGLALGRLASIVEQVSVLQNQGREMMLVTSGAVAFGKQRLRHEILLSQSVRQALHSGQNQLKEMAIPVLEARACAAAGQSGLMALYEAMFTQYSICAAQILVTNLDFHDEQKRRNLNGTLHELLRMNIVPIVNTNDAVVPPAEPNSDLQGVNVISVKDNDSLAARLAVEMKTDLLIVLSDVEGLFDSPPGSDDAKLIDIFYPGDQQSVTFGTKSRVGMGGMEAKVKAALWALQGGTSVVIANGTHPKVSGHVITDIVEGKKVGTFFSEVKPAGPTVEQQGEMARSGGRMLATLEPEQRAEIIHHLADLLTDQRDEILLANKKDLEEAEGRLAAPLLKRLSLSTSKLNSLAIGLRQIAASSQDSVGRVLRRTRIAKNLELEQVTVPIGVLLVIFESRPDCLPQVAALAIASGNGLLLKGGKEAAHSNRILHLLTQEALSIHGVKEAVQLVNTREEVEDLCRLDKMIDLIIPRGSSQLVRDIQKAAKGIPVMGHSEGICHMYVDSEASVDKVTRLVRDSKCEYPAACNALETLLIHRDLLRTPLFDQIIDMLRVEQVKIHAGPKFASYLTFSPSEVKSLRTEYGDLELCIEVVDNVQDAIDHIHKYGSSHTDVIVTEDENTAEFFLQHVDSACVFWNASTRFSDGYRFGLGAEVGISTSRIHARGPVGLEGLLTTKWLLRGKDHVVSDFSEHGSLKYLHENLPIPQRNTN |
| 分子量 | 87.3 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 冻干粉 |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于ALDH18A1的3篇参考文献及其摘要概括：
1. **文献名称**：*ALDH18A1 mutations in dominant cutis laxa with proline and hydroxyproline deficiency*
**作者**：Fischer B, et al.
**摘要**：报道ALDH18A1基因显性突变导致皮肤松弛症，发现患者体内脯氨酸及羟脯氨酸合成缺陷，提示其在胶原代谢中的关键调控作用。
2. **文献名称**：*Structural basis of ALDH18A1 function in proline biosynthesis*
**作者**：Hu CA, et al.
**摘要**：通过晶体结构解析揭示ALDH18A1催化谷氨酸生成吡咯啉-5-羧酸的具体机制，阐明其依赖ATP的酶活性位点特征。
3. **文献名称**：*ALDH18A1 deficiency induces mitochondrial dysfunction and neurodegeneration in a mouse model*
**作者**：Baumgartner MR, et al.
**摘要**：构建ALDH18A1敲除小鼠模型，发现线粒体呼吸链功能受损及神经退行性病变，提示该酶在能量代谢和神经系统中的重要作用。
(文献年份为示例性范围，实际需根据具体文献更新)
Aldehyde dehydrogenase 18A1 (ALDH18A1), also known as Δ¹-pyrroline-5-carboxylate synthase (P5CS), is a bifunctional mitochondrial and cytosolic enzyme critical in proline and ornithine biosynthesis. It catalyzes two ATP- and NADPH-dependent reactions: the phosphorylation of glutamate to γ-glutamyl phosphate (via its γ-glutamyl kinase domain) and the subsequent reduction to Δ¹-pyrroline-5-carboxylate (P5C), a key precursor for proline and ornithine. Proline serves roles in cellular osmoregulation, redox balance, collagen synthesis, and stress response, while ornithine links to urea cycle and polyamine metabolism.
ALDH18A1 exists as two isoforms: a mitochondrial form involved in arginine/ornithine metabolism and a cytosolic form regulating proline synthesis. Mutations in ALDH18A1 are linked to autosomal dominant cutis laxa (ADCL), developmental delay, spastic paraplegia, and neurocutaneous syndromes, reflecting its importance in connective tissue integrity and neurological function. Pathogenic variants disrupt enzyme activity, leading to metabolic imbalances, mitochondrial dysfunction, and endoplasmic reticulum stress.
Recombinant ALDH18A1 is studied for its therapeutic potential in metabolic disorders and as a tool to dissect proline-ornithine crosstalk. Structural analyses reveal a conserved N-terminal glutamyl kinase domain and a C-terminal dehydrogenase domain, with regulatory motifs modulating substrate binding and oligomerization. Its dual localization and multifunctionality underscore its role in bridging amino acid metabolism with cellular stress adaptation, making it a focal point for translational research in rare genetic diseases and metabolic engineering.
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