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TRANSPORTERS FROM HUMANS:
Transporter Information:
Name: sodium channel, voltage gated, type VIII, alpha
Symbol: SCN8A
TC: 1.A.1.10.1
Locations: 12q13.1
Swiss-Prot: O95788
Accession Number: NM_014191
Old Name: sodium channel, voltage gated, type VIII, alpha polypeptide
GDBGDB:631695
LocusLink6334
OMIM600702
PubMed (7670495): Burgess DL, Kohrman DC, Galt J, Plummer NW, Jones JM, Spear B, Meisler MH. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motorendplate disease'.Nat Genet. 1995 Aug;10(4):461-5. PMID: 7670495 [PubMed - indexed for MEDLINE]

The mouse neurological mutant 'motor endplate disease' (med) is characterized by early onset progressive paralysis of the hind limbs, severe muscle atrophy, degeneration of Purkinje cells and juvenile lethality. We have isolated a voltage-gated sodium channel gene, Scn8a, from the flanking region of a transgene-induced allele of med. Scn8a is expressed in brain and spinal cord but not in skeletal muscle or heart, and encodes a predicted protein of 1,732 amino acids. An intragenic deletion at the transgene insertion site results in loss of expression. Scn8a is closely related to other sodium channel alpha subunits, with greatest similarity to a brain transcript from the pufferfish Fugu rubripes. The human homologue, SCN8A, maps to chromosome 12q13 and is a candidate gene for inherited neurodegenerative disease.

PubMed (9828131): Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, MeislerMH. Exon organization, coding sequence, physical mapping, and polymorphicintragenic markers for the human neuronal sodium channel gene SCN8A.Genomics. 1998 Dec 1;54(2):287-96. PMID: 9828131 [PubMed - indexed for MEDLINE]

The voltage-gated sodium channel SCN8A is associated with inherited neurological disorders in the mouse that include ataxia, dystonia, severe muscle weakness, and paralysis. We report the complete coding sequence and exon organization of the human SCN8A gene. The predicted 1980 amino acid residues are distributed among 28 exons, including two pairs of alternatively spliced exons. The SCN8A protein is evolutionarily conserved, with 98.5% amino acid sequence identity between human and mouse. Consensus sites for phosphorylation of serine/threonine and tyrosine residues are present in cyoplasmic loop domains. The polymorphic (CA)n microsatellite marker D12S2211, with PIC = 0.68, was isolated from intron 10C of SCN8A. Single nucleotide polymorphisms in intron 19 and exon 22 were also identified. We localized SCN8A to chromosome band 12q13.1 by physical mapping on a YAC contig. The cDNA clone CSC-1 was reported by others to be a cardiac-specific sodium channel, but sequence comparison demonstrates that it is derived from exon 24 of human SCN8A. The genetic information described here will be useful in evaluating SCN8A as a candidate gene for human neurological disease.