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This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
[中文简述(自动翻译):]  该基因编码的degenerin /上皮钠通道(DEG / ENaC的)超家族的一个成员。这个家族的成员是包含细胞内的N和C末端,两个疏水跨膜区和一个大型的胞外环,它与保守的间距许多半胱氨酸残基阿米洛利敏感的钠通道。由该基因编码的构件是酸传感器,并在检测持续pH变化可发挥重要的作用。此外,这种构件和酸传感之间的异关联(质子门控)离子通道2已经观察到钆敏感质子门控通道。可变剪接转录物变体已有描述。 [由RefSeq的,2012年2月提供]
ASIC3基因(以及对应的蛋白质)的细胞分布位置:
ASIC3基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Inflammation | 0.12 | 1 | 0 | CTD_human |
Hypertensive disease | 0.002367032 | 1 | 0 | GAD |
Insulin Resistance | 0.002367032 | 1 | 0 | GAD |
Coronary Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Fatigue | 0.000542884 | 2 | 0 | BeFree |
Myocardial Ischemia | 0.000542884 | 2 | 0 | BeFree |
Arthritis | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Pressure Ulcer | 0.000271442 | 1 | 0 | BeFree |
Fibromyalgia | 0.000271442 | 1 | 0 | BeFree |
Hyperalgesia | 0.000271442 | 1 | 0 | BeFree |
Myalgia | 0.000271442 | 1 | 0 | BeFree |
Inflammatory pain | 0.000271442 | 1 | 0 | BeFree |
Autonomic nervous system imbalance | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Hyperalgesia, Primary | 0.000271442 | 1 | 0 | BeFree |
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