SCN8A

SCN8A
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3WFN
Dynodwyr
Cyfenwau	SCN8A, CERIII, CIAT, EIEE13, MED, NaCh6, Nav1.6, PN4, sodium voltage-gated channel alpha subunit 8, BFIS5, MYOCL2, DEE13
Dynodwyr allanol	OMIM: 600702 HomoloGene: 7927 GeneCards: SCN8A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • sodium channel activity • voltage-gated ion channel activity • ion channel activity • ATP binding • GO:0001948, GO:0016582 protein binding • voltage-gated sodium channel activity Cydrannau o'r gell • voltage-gated sodium channel complex • integral component of membrane • bilen • node of Ranvier • Z disc • axon initial segment • GO:0016023 cytoplasmic vesicle • Cellbilen • axon Prosesau biolegol • membrane depolarization during action potential • peripheral nervous system development • sodium ion transport • regulation of ion transmembrane transport • cludo ïon • nervous system development • cludo transmembrane rhwng ïonau • transmembrane transport • myelination • neuronal action potential • sodium ion transmembrane transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6334	n/a
Ensembl	ENSG00000196876	n/a
UniProt	Q9UQD0	n/a
RefSeq (mRNA)	NM_001177984 NM_014191 NM_175894 NM_001330260 NM_001369788	n/a
RefSeq (protein)	NP_001171455 NP_001317189 NP_055006 NP_001356717	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SCN8A yw SCN8A a elwir hefyd yn Sodium channel protein type 8 subunit alpha a Sodium voltage-gated channel alpha subunit 8 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 12, band 12q13.13.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn SCN8A.

• MED
• PN4
• CIAT
• BFIS5
• NaCh6
• CERIII
• EIEE13
• Nav1.6

Llyfryddiaeth

• "The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. ". Epilepsia. 2016. PMID 27375106.
• "Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol. ". Brain. 2016. PMID 27267376.
• "SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. ". BMC Med Genet. 2017. PMID 28923014.
• "De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. ". Epilepsy Res. 2017. PMID 27875746.
• SCN8A-Related Epilepsy with Encephalopathy. 1993. PMID 27559564.