Metazoan complexes |
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Emili & Marcotte labs |
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Details of SCNN1G gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SCNN1G | --- | P51170 | SCNNG_HUMAN | 6340 | ENSG00000166828 | Amiloride-sensitive sodium channel subunit gamma | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Liddle syndrome (LIDDS) [MIM:177200]: Autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel. Note=The disease is caused by mutations affecting the gene represented in this entry. | 177200 | Bronchiectasis with or without elevated sweat chloride 3 (BESC3) [MIM:613071]: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613071 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Scnn1g | CG31105... | asic-1... | Sp-Scnn1a... |