Sequence in raw or FASTA format:
SCN9A sodium channel, voltage-gated, type IX, alpha subunit [Homo sapiens (human)]
|Entrez Gene ID||6335|
|Full Name||sodium channel, voltage-gated, type IX, alpha subunit|
|Synonyms||ETHA, FEB3B, GEFSP7, NE-NA, NENA, Nav1.7, PN1, SFNP|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009].|
Erythermalgia, primary, 133020 (3); Insensitivity to pain,
|REACT_22266||Interaction between L1 and Ankyrins|
|Homo sapiens (human)||SCN9A||NP_002968.1|
|Pan troglodytes (chimpanzee)||SCN9A||XP_003309333.2|
|Macaca mulatta (Rhesus monkey)||SCN9A||XP_001101662.2|
|Canis lupus familiaris (dog)||SCN9A||XP_005640317.1|
|Bos taurus (cattle)||SCN9A||NP_001104257.1|
|Mus musculus (house mouse)||Scn9a||NP_061340.2|
|Rattus norvegicus (Norway rat)||Scn9a||NP_579823.1|
|Gallus gallus (chicken)||SCN9A||XP_004942840.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||scn2a||XP_002939316.2|
|GO:0006814||sodium ion transport||TAS|
|GO:0009636||response to toxic substance||IEA|
|GO:0019228||neuronal action potential||IBA|
|GO:0034765||regulation of ion transmembrane transport||IEA|
|GO:0035725||sodium ion transmembrane transport||IBA|
|GO:0048266||behavioral response to pain||IEA|
|GO:0086010||membrane depolarization during action potential||IBA|
|GO:0001518||voltage-gated sodium channel complex||IEA|
|GO:0005248||voltage-gated sodium channel activity||IBA|
|GO:0031402||sodium ion binding||IEA|
What is the normal function of the SCN9A gene?
The SCN9A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals. Nociceptors are part of the peripheral nervous system, which connects the brain and spinal cord to cells that detect sensations such as touch, smell, and pain. Nociceptors are primarily involved in transmitting pain signals. The centers of nociceptors, known as the cell bodies, are located in a part of the spinal cord called the dorsal root ganglion. Fibers called axons extend from the cell bodies, reaching throughout the body to receive sensory information. Axons transmit the information back to the dorsal root ganglion, which then sends it to the brain. NaV1.7 sodium channels are also found in olfactory sensory neurons, which are nerve cells in the nasal cavity that transmit smell-related signals to the brain.
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