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SCN9A

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]
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Transporters, Voltage-gated ion channels

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Oligodendrocyte precursor cells, Hofbauer cells, Inhibitory neurons, dendritic cells, Langerhans cells)

Immune cell specificity

Immune cell enriched (plasmacytoid DC)

Cell line specificity

Cell line enhanced (BJ, BJ hTERT+, HHSteC, hTERT-RPE1)

Interaction

The sodium channel complex consists of a large, channel-forming alpha subunit (SCN9A) regulated by one or more beta subunits (SCN1B, SCN2B, SCN3B and SCN4B) (PubMed:7720699, 17167479, 25240195). SCN1B and SCN3B are non-covalently associated with SCN2A. SCN2B and SCN4B are disulfide-linked to SCN2A. Interacts with NEDD4 and NEDD4L (By similarity). Interacts with the scorpion alpha-toxin CvIV4 (PubMed:21887265). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider huwentoxin-IV (through the extracellular loop S3-S4 of repeat II) (PubMed:20855463, 21659528, 30661758, 30765606). Interacts with the spider protoxin-II (through the extracellular loop S3-S4 of repeats II and IV) (PubMed:20855463, 21659528, 30661758, 30765606). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).

Molecular function

Ion channel, Sodium channel, Voltage-gated channel

More Types Infomation

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