full name
sodium voltage-gated channel alpha subunit 4

synonyms
HOKPP2, HYKPP, HYPP, Na%28V%291.4, NAC1A, Nav1.4, SkM1, SCN4A, ENSG00000007314

HGNC
HGNC:10591

Entrez Gene
Gene:6329

ENSEMBL
ENSG00000007314

location
chr: 17
start: 62015914
stop: 62066876
strand: -

OMIM
OMIM:603967: SCN4A (Autosomal dominant inheritance)
OMIM:170500: Hyperkalemic periodic paralysis, type 2
OMIM:613345: Hypokalemic periodic paralysis, type 2
OMIM:614198: Myasthenic syndrome, congenital, 16
OMIM:608390: Myotonia congenita, atypical, acetazolamide-responsive
OMIM:168300: Paramyotonia congenita

transcripts
NM_000334.4

pathways
Axon guidance [NCBI:83065] [KEGG:hsa04360] [NCBI:1270303] [REACTOME:R-HSA-422475] [PUBMED:14682358] [PUBMED:15084255] [PUBMED:11687826] [PUBMED:15818466] [PUBMED:15363605] [PUBMED:12471249] [PUBMED:15630019] [PUBMED:11891122] [PUBMED:15960985] [PUBMED:12677003]
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:19808464] [PUBMED:26140724] [PUBMED:21357845]
Developmental Biology [NCBI:1270302] [REACTOME:R-HSA-1266738]
Interaction between L1 and Ankyrins [NCBI:1270325] [REACTOME:R-HSA-445095] [PUBMED:19356150] [PUBMED:16904324] [PUBMED:20156840] [PUBMED:18839070]
L1CAM interactions [NCBI:1270323] [REACTOME:R-HSA-373760] [PUBMED:9211984] [PUBMED:18760361] [PUBMED:14709786] [PUBMED:17189949] [PUBMED:19356150]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Phase 0 - rapid depolarisation [NCBI:1339117] [REACTOME:R-HSA-5576892] [PUBMED:21357845] [PUBMED:19808464]