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Search references for SCN5A. Phrases containing SCN5A
See searches and references containing SCN5A!SCN5A
Protein-coding gene in the species Homo sapiens
mutations in NaV1.5 (see paragraph genetics). SCN5A is the gene that encodes the cardiac sodium channel NaV1.5. SCN5A is a highly conserved gene located on human
SCN5A
Heart conduction disease
genetic mutation or certain medications. The most commonly involved gene is SCN5A which encodes the cardiac sodium channel. Diagnosis is typically by electrocardiogram
Brugada_syndrome
Medical condition
Romano–Ward syndrome is caused by variants in the SCN5A gene located on chromosome 3p22–24. SCN5A encodes the alpha subunit of the cardiac sodium channel
Long_QT_syndrome
Medical condition
Romano–Ward syndrome is caused by variants in the SCN5A gene located on chromosome 3p21-24. SCN5A encodes the alpha subunit of the cardiac sodium channel
Romano–Ward_syndrome
Fatal complication of epilepsy
1 (LQT1), and epilepsy. Similarly, mutations in KCNH2 (linked to LQT2), SCN5A (LQT3), KCNJ2 (LQT7), and CACNA1C (LQT8) have been reported in cases of
Sudden unexpected death in epilepsy
Sudden_unexpected_death_in_epilepsy
Pharmaceutical compound
(PET) imaging of voltage-gated sodium channels (NaVs), particularly the SCN5A isoform, which is predominant in cardiac tissue. It is being explored for
Radiocaine
Functional gastrointestinal disorder
inflammatory processes and immune responses, as well as psychosocial factors. SCN5A mutations are found in a small number of people who have IBS, particularly
Irritable_bowel_syndrome
Medical condition
Scientists have also associated this syndrome with a mutation of gene SCN5A that affects the function of the heart. A 2011 autopsy-based study found
Sudden arrhythmic death syndrome
Sudden_arrhythmic_death_syndrome
Medical condition
mechanism of this selection event is unclear. Mutations in genes (SEPHS2, SCN5A, GPX-1, ALAD) are linked to family-clusters of the disease. Keshan disease
Keshan_disease
Opioid analgesic
Methadone is also known to block the Nav1.5 voltage-gated Na+ channel (SCN5A) with an IC50 of ~10 μM, which is similar to the local anesthetic bupivacaine
Methadone
Medical condition
risk. A mouse model studied mice with a heterogenous mutation to their SCN5a gene, which impacts the formation of Na+ channels, leaving them with myocardial
Lev's_disease
Condition involving an enlarged, ineffective heart
candidate) 9q13 CMD1C 601493 LDB3 10q22-q23 CMD1D 601494 TNNT2 1q32 CMD1E 601154 SCN5A 3p CMD1F 602067 6q23 CMD1G 604145 TTN 2q31 CMD1H 604288 2q14-q22 CMD1I 604765
Dilated_cardiomyopathy
Medical condition
the same gene. An overlap syndrome can be seen whereby a mutation in the SCN5A gene encoding the cardiac sodium channel causes a reduction in the peak
Overlap_syndrome
Transmembrane protein allowing sodium ions in and out
Nav1.1 through Nav1.9. The gene names are referred to as SCN1A through SCN5A, then SCN8A through SCN11A. The "tenth member", Nax, does not act in a voltage-gated
Sodium_channel
Medical condition
responsible for the formation of the alpha subunit of the sodium channel (SCN5A). Common cardiac pharmacology such as beta-blockers, calcium channel blockers
Sinus_node_dysfunction
Biological process in the heart
2002.129255. ISSN 1071-9164. PMID 12555135. Sherwood 2008, pp. 248–50. "SCN5A sodium channel, voltage-gated, type V, alpha subunit [Homo sapiens (human)]"
Cardiac_action_potential
Chemical compound
genetic disease that can result in mutations in the sodium ion channel (gene SCN5A) of the myocytes in the heart. Brugada syndrome can result in ventricular
Ajmaline
Toxin in venom of Phrixotrichus auratus
sodium channel subtypes (Nav1.1/SCN1A, Nav1.2/SCN2A, Nav1.4/SCN4A, Nav1.5/SCN5A, and Nav1.8/SCN10A) (Bosmans 2006) harv error: no target: CITEREFBosmans2006
Phrixotoxin
Family of transport proteins
Nav1.1 through Nav1.9. The gene names are referred to as SCN1A through SCN5A, then SCN8A through SCN11A. The "tenth member", Nax, does not act in a voltage-gated
Voltage-gated_sodium_channel
Medical condition
voltage gated calcium current - CACNA1C, CACNB2B, CACNA2D1, sodium current - SCN5A, SCN10A. Early repolarization with ST segment elevation was first described
Benign_early_repolarization
Protein-coding gene in the species Homo sapiens
firing. The ANK3 protein associates with the cardiac sodium channel Nav1.5 (SCN5A). Both proteins are highly expressed at ventricular intercalated disc and
Ankyrin-3
Human chromosome
RBM6: RNA-binding protein 6 RPP14: Ribonuclease P protein subunit p14 SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) SETD5:
Chromosome_3
Electric current produced in living cells
Hales, T. G; Stuart, J. M; Lee, N. H (2010). "Voltage-gated Na+ channel SCN5A is a key regulator of a gene transcriptional network that controls colon
Developmental_bioelectricity
Protein-coding gene in the species Homo sapiens
ventricular arrhythmia most commonly linked to voltage-gated sodium channel gene SCN5A mutations, but also associated with some Kv channel gene sequence variants
KCNE5
tested. The molecular autopsy focuses on four main genes: KCNQ1, KCNH2, SCN5A, and RYR2. Greater than 95% of the mutations found in the molecular autopsy
Molecular_autopsy
Protein-coding gene in the species Homo sapiens
"Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants". Europace. 21 (10): 1550–1558. doi:10.1093/europace/euz186
Nav1.8
Protein-coding gene in humans
"Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations". Basic Research in Cardiology. 109 (6) 446. doi:10
CACNA1C
Medical condition
(TNF-SF15); intracellular cell signaling (G proteins); and ion channels (SCN5A). However, the expression of a FGID requires the influence of additional
Functional gastrointestinal disorder
Functional_gastrointestinal_disorder
Protein-coding gene in the species Homo sapiens
(2002). "The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart". J. Physiol. 537 (Pt 3):
SCN1B
Protein-coding gene in the species Homo sapiens
redundant information for the development of the heart. Common variants of SCN5A, SCN10A, and HEY2 (this gene) are associated with Brugada syndrome. HEY2
HEY2
Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A". J. Cardiovasc. Electrophysiol. 15 (1): 64–9. doi:10.1046/j.1540-8167.2004
List of circulatory system conditions
List_of_circulatory_system_conditions
Pakistani organic chemist (1897–1994)
Parameters and Ajmaline Test in the Diagnosis of Brugada Syndrome Caused by SCN5A Mutations". Circulation. 110 (19): 3023–3027. doi:10.1161/01.CIR.0000144299
Salimuzzaman_Siddiqui
Protein helix–loop–helix motif
S100A11; S100A12; S100A6; S100A8; S100A9; S100B; S100G; S100Z; SCAMC-2; SCGN; SCN5A; SDF4; SLC25A12; SLC25A13; SLC25A23; SLC25A24; SLC25A25; SPATA21; SPTA1;
EF_hand
Protein-coding gene in humans
Litt M (May 2008). "Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated
CSRP3
Protein-coding gene in the species Homo sapiens
TRPV5 Ubiquitous Cl− channel CLCN2 (ClC2) Cardiac voltage-gated Na+ channel SCN5A Cardiac and epithelial K+ channels KCNE1/KCNQ1 Voltage-gated K+ channels
SGK1
syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)". Journal of Clinical Investigation. 112 (7): 1019–1028. doi:10.1172/JCI18062
Simple Mendelian genetics in humans
Simple_Mendelian_genetics_in_humans
Family of ion channel proteins
KCNN4) KCa5.1 (Slo3, KCNU1) NALCN SCN1A; SCN2A; SCN2A2; SCN3A; SCN4A; SCN5A; SCN7A; SCN8A; SCN9A; SCN10A; SCN11A SLC9A10; SLC9A11 CNGA1; CNGA2; CNGA3;
Cation_channel_superfamily
Medical nonprofit in Utica, United States
J, T and U waves. Between 1996 and 1998 MMRI published the first gene, SCN5A, to be linked to idiopathic ventricular fibrillation (IVF). The MMRI named
Masonic Medical Research Institute
Masonic_Medical_Research_Institute
Protein family
PRX PSCDBP PTPN13 PTPN3 PTPN4 RAPGEF2 RGS12 RGS3 RHPN1 RIL RIMS1 RIMS2 SCN5A SCRIB SDCBP SDCBP2 SHANK1 SHANK2 SHANK3 SHROOM2 SHROOM3 SHROOM4 SIPA1 SIPA1L1
PDZ_domain
Protein in the human body
interact with: ANKRD2, BMP10, MLP, MinK, MDM2, MSTN, MYOZ1, MYOZ2, PRKD1, SCN5A, SIVA, and Titin, GRCh38: Ensembl release 89: ENSG00000173991 – Ensembl
Telethonin
Protein found in humans
Desmoglein-2 has been shown to interact with: DSC1 PKP3 Plakoglobin and SCN5A Desmoglein List of conditions caused by problems with junctional proteins
Desmoglein-2
600965; WFS1 Heart block, nonprogressive; 113900; SCN5A Heart block, progressive, type IA; 113900; SCN5A Heinz body anemia; 140700; HBA2 Heinz body anemias
List_of_OMIM_disorder_codes
Protein-coding gene in the species Homo sapiens
consensus binding site a site homologous to the cardiac sodium channel SCN5A C-terminal lysine-206 residue Northern blot analysis detected a single GPD1L
GPD1L
sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-10-23. "SCN5A sodium voltage-gated channel alpha subunit 5 [Homo sapiens (human)] - Gene
LmαTX5
"Mapping of reentrant spontaneous polymorphic ventricular tachycardia in a Scn5a +/− mouse model". American Journal of Physiology. Heart and Circulatory
Christopher_L.-H._Huang
Q9NY72 14382 SCN4A HGNC:10591; P35499 14383 SCN4B HGNC:10592; Q8IWT1 14384 SCN5A HGNC:10593; Q14524 14385 SCN7A HGNC:10594; Q01118 14386 SCN8A HGNC:10596;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein-coding gene in the species Homo sapiens
2000). "Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2". Circulation. 102 (10): 1178–1185. doi:10.1161/01.cir
KCNE1
Protein-coding gene in the species Homo sapiens
desmoglein 1, desmoglein 2, desmoplakin, connexin 43, plakoglobin, Kir6.2, and SCN5A. Skin fragility syndrome GRCh38: Ensembl release 89: ENSG00000057294 – Ensembl
Plakophilin-2
SCN5A
SCN5A
SCN5A
SCN5A
SCN5A
SCN5A
SCN5A
SCN5A
SCN5A