Nav1.9
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Sodium channel, voltage-gated, type XI, alpha subunit | |||||||||||||
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Identifiers | |||||||||||||
Symbols | SCN11A ; NAV1.9; NaN; SCN12A; SNS-2 | ||||||||||||
External IDs | OMIM: 604385 MGI: 1345149 HomoloGene: 8041 IUPHAR: 586 ChEMBL: 5167 GeneCards: SCN11A Gene | ||||||||||||
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Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 11280 | 24046 | |||||||||||
Ensembl | ENSG00000168356 | ENSMUSG00000034115 | |||||||||||
UniProt | Q9UI33 | Q9R053 | |||||||||||
RefSeq (mRNA) | NM_014139 | NM_011887 | |||||||||||
RefSeq (protein) | NP_054858 | NP_036017 | |||||||||||
Location (UCSC) | Chr 3: 38.89 – 38.99 Mb |
Chr 9: 119.75 – 119.83 Mb |
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PubMed search | [1] | [2] | |||||||||||
Sodium channel, voltage-gated, type XI, alpha subunit also known as SCN11A or Nav1.9 is a voltage-gated sodium ion channel protein which in humans is encoded by the SCN11A gene.[1][2]
Function
Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[3]
Clinical significance
Mutations in this gene have been associated to loss of pain perception.[4]
References
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Further reading
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External links
- SCN11A protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.