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Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
[中文简述(自动翻译):]  非电压门控,阿米洛利敏感的钠通道控制整个上皮细胞液体和电解质运输许多器官。这些通道是由3个亚基异复合物:α,β,γ。该基因编码的α亚基,和在该基因突变与假性1型(PHA1),罕见盐消耗性疾病从靶器官无反应到盐皮质激素导致相关联。编码不同同种型的可变剪接转录物变体已被用于这个基因说明。 [由RefSeq的,2009年4月提供]
SCNN1A基因(以及对应的蛋白质)的细胞分布位置:
SCNN1A基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive | 0.360271442 | 3 | 2 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | 0.36 | 1 | 4 | CLINVAR_CTD_human_UNIPROT |
| Pseudohypoaldosteronism | 0.125991584 | 5 | 0 | BeFree_CTD_human_LHGDN |
| Hypertensive disease | 0.125819831 | 7 | 0 | BeFree_CTD_human_GAD |
| Cystic Fibrosis | 0.125362824 | 5 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Liddle Syndrome | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Lung diseases | 0.12 | 2 | 0 | CTD_human |
| Neoplasms, Germ Cell and Embryonal | 0.12 | 1 | 0 | CTD_human |
| Obesity | 0.12 | 1 | 1 | GWASCAT |
| Polycystic Ovary Syndrome | 0.12 | 1 | 0 | CTD_human |
| Pre-Eclampsia | 0.12 | 1 | 0 | CTD_human |
| Proteinuria | 0.12 | 1 | 0 | CTD_human |
| Idiopathic bronchiectasis | 0.12 | 0 | 0 | ORPHANET |
| Nephrotic Syndrome | 0.08 | 1 | 0 | RGD |
| Inflammation | 0.007101096 | 3 | 1 | GAD |
| Premature Birth | 0.007101096 | 3 | 1 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.004734064 | 2 | 0 | GAD |
| Diarrhea | 0.00272435 | 1 | 0 | LHGDN |
| Pulmonary Edema | 0.00272435 | 1 | 0 | LHGDN |
| Amyotrophic Lateral Sclerosis | 0.002638474 | 2 | 4 | BeFree_GAD |
| Asthma | 0.002367032 | 1 | 1 | GAD |
| Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
| Cerebral Palsy | 0.002367032 | 1 | 0 | GAD |
| Connective Tissue Diseases | 0.002367032 | 1 | 0 | GAD |
| Fetal Diseases | 0.002367032 | 1 | 0 | GAD |
| Congenital Heart Defects | 0.002367032 | 1 | 0 | GAD |
| Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
| Musculoskeletal Diseases | 0.002367032 | 1 | 0 | GAD |
| Pregnancy Complications, Hematologic | 0.002367032 | 1 | 0 | GAD |
| Dermatologic disorders | 0.002367032 | 1 | 0 | GAD |
| Restenosis | 0.002367032 | 1 | 0 | GAD |
| Blood pressure finding | 0.002367032 | 1 | 0 | GAD |
| Systemic arterial pressure | 0.002367032 | 1 | 0 | GAD |
| Venous Thromboembolism | 0.002367032 | 1 | 0 | GAD |
| Infection | 0.002367032 | 1 | 0 | GAD |
| Pseudohypoaldosteronism, Type I | 0.001900093 | 7 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000542884 | 2 | 0 | BeFree |
| Essential Hypertension | 0.000542884 | 2 | 0 | BeFree |
| Kidney Diseases | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Ankylosing spondylitis | 0.000271442 | 1 | 0 | BeFree |
| Metabolic Syndrome X | 0.000271442 | 1 | 1 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
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