GAL基因编码半乳糖苷酶(galactosidase),属于糖苷水解酶家族(glycoside hydrolase family),特别是GH27家族。该家族成员主要参与糖代谢,能够水解糖苷键,分解半乳糖苷类化合物。GAL基因表达的半乳糖苷酶在溶酶体中发挥作用,参与分解糖脂和糖蛋白中的半乳糖残基,对细胞代谢和能量平衡至关重要。该基因突变可能导致半乳糖苷酶活性降低或丧失,引发溶酶体贮积症,如GM1神经节苷脂贮积症,表现为神经退行性变、肝脾肿大和骨骼异常。GAL基因过表达可能加速糖类代谢,影响细胞能量供应,而表达降低则可能导致未降解底物积累,损害细胞功能。该基因家族(GH27)的共性包括保守的催化结构域和相似的底物特异性,主要作用于α-半乳糖苷键。GAL基因的功能异常还与法布里病等遗传病相关,表明其在脂质代谢中的重要性。研究该基因有助于理解溶酶体疾病机制并开发靶向疗法。
Galanin is small neuropeptide that functions as a cellular messenger within the central and peripheral nervous systems, modulating diverse physiologic functions (Mechenthaler, 2008 [PubMed 18500643]).[supplied by OMIM, Jan 2009]
Subcellular localization of GAL (and its protein):
Gene Ontology (GO) terms for GAL:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 4080 Neuroactive ligand-receptor interaction [PATH:hsa04080] |
| Name |
|---|
| Class A/1 (Rhodopsin-like receptors) |
| G alpha (i) signalling events |
| GPCR downstream signaling |
| GPCR ligand binding |
| Peptide ligand-binding receptors |
| Signal Transduction |
| Signaling by GPCR |
| Disease | Score | NofPmids | NofSnps | Source |
| Hypertensive disease | 0.2 | 2 | 0 | CTD_human_RGD |
| Inflammation | 0.12 | 1 | 0 | CTD_human |
| Neuralgia | 0.12 | 1 | 0 | CTD_human |
| Tachycardia | 0.12 | 1 | 0 | CTD_human |
| Hyperalgesia | 0.12 | 1 | 0 | CTD_human |
| Diabetes Mellitus, Insulin-Dependent | 0.082638474 | 2 | 0 | BeFree_GAD_RGD |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Mononeuropathies | 0.08 | 1 | 0 | RGD |
| Brain Ischemia | 0.08 | 1 | 0 | RGD |
| Alzheimer's Disease | 0.005634266 | 4 | 0 | BeFree_GAD_LHGDN |
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