SCNN1A P37088

上皮钠通道α亚基 (Alpha-ENaC) (ENaC α亚基) (ENaCA) (上皮Na(+)通道α亚基) (Alpha-NaCH) (阿米洛利敏感性钠通道α亚基) (非电压门控钠通道1 α亚基) (SCNEA) (上皮钠通道1 α亚基)

功能描述

这是异三聚体上皮钠通道 (ENaC) 的三个成孔亚基之一，该通道是钠平衡和液体稳态的关键调节因子 (PubMed:30251954, PubMed:32729833, PubMed:8023962, PubMed:8278374, PubMed:9792722)。ENaC 在上皮组织中发挥作用，介导钠离子从细胞外液经细胞顶膜的电扩散，水分子随之渗透 (PubMed:24124190, PubMed:28710092, PubMed:8278374)。它通过肾脏中的生电性钠重吸收，在维持钠稳态方面发挥关键作用 (PubMed:12107247)。此外，ENaC 对气道表面液体稳态至关重要，这对于正常的粘液清除必不可少 (PubMed:24124190, PubMed:28710092)。 {ECO:0000269|PubMed:12107247, ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:28710092, ECO:0000269|PubMed:30251954, ECO:0000269|PubMed:32729833, ECO:0000269|PubMed:8023962, ECO:0000269|PubMed:8278374, ECO:0000269|PubMed:9792722}.; FUNCTION: [Isoform 4]: 无功能。 {ECO:0000269|PubMed:9575806}.

组织特异性

Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). Highly expressed in lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta (PubMed:22207244). in skin, expressed in keratinocytes, melanocytes and Merkel cells of the epidermal sub-layers, stratum basale, stratum spinosum and stratum granulosum (at protein level) (PubMed:28130590). Expressed in the outer root sheath of the hair follicles (at protein level) (PubMed:28130590). Detected in both peripheral and central cells of the sebaceous gland (at protein level) (PubMed:28130590). Expressed by eccrine sweat glands (at protein level) (PubMed:28130590). In skin, also expressed by arrector pili muscle cells and intradermal adipocytes (PubMed:28130590). Isoform 1 and isoform 2 predominate in all tissues.

亚细胞定位

Apical cell membrane