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This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
[中文简述(自动翻译):]  该基因编码参与碳酸氢分泌和吸收和细胞内pH的调节中碳酸氢钠协同转运蛋白(NBC)。在这种基因突变与近端肾小管性酸中毒。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2008年10月提供]
SLC4A4基因(以及对应的蛋白质)的细胞分布位置:
SLC4A4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 0.48 | 3 | 3 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Renal tubular acidosis | 0.128173051 | 3 | 0 | CTD_human_LHGDN |
Cataract | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Glaucoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Developmental Disabilities | 0.12 | 1 | 0 | CTD_human |
Corneal Opacity | 0.12 | 1 | 0 | CTD_human |
Renal Tubular Acidosis, Type II | 0.086514605 | 24 | 0 | BeFree_MGD |
Hypertensive disease | 0.081085767 | 5 | 0 | BeFree_RGD |
Nephrogenic Diabetes Insipidus | 0.08 | 1 | 0 | RGD |
Renal Cell Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Cystic Fibrosis | 0.002367032 | 1 | 0 | GAD |
Glomerular filtration rate finding | 0.002367032 | 1 | 1 | GAD |
Bilateral cataracts (disorder) | 0.000814326 | 3 | 0 | BeFree |
Mental Retardation | 0.000542884 | 2 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Osteopetrosis | 0.000271442 | 1 | 0 | BeFree |
Retinal Diseases | 0.000271442 | 1 | 0 | BeFree |
Metabolic Syndrome X | 0.000271442 | 1 | 0 | BeFree |
Aqueous Humor Disorders | 0.000271442 | 1 | 0 | BeFree |
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