Anti-SLC6A1 monoclonal antibody (DCABH-6396)

Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Clone
FQS23009
Species Reactivity
Mouse, Rat, Human
Immunogen
Synthetic peptide (the amino acid sequence is considered to be commercially sensitive) within Human GABA Transporter 1/ GAT 1 aa 1-100 (Cysteine residue). The exact sequence is proprietary.Database link: P30531
Conjugate
Unconjugated

Applications


Application Notes
Recommended dilution:
WB: 1/1000 - 1/10000
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
SLC6A1; solute carrier family 6 (neurotransmitter transporter, GABA), member 1; sodium- and chloride-dependent GABA transporter 1; GABATHG; GABATR; GAT1
Entrez Gene ID
UniProt ID

Product Background


Gene summary
SLC6A1 (Solute Carrier Family 6 Member 1) is a Protein Coding gene. Diseases associated with SLC6A1 include myoclonic-atonic epilepsy and myoclonic-astastic epilepsy. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. GO annotations related to this gene include neurotransmitter:sodium symporter activity and gamma-aminobutyric acid:sodium symporter activity. An important paralog of this gene is SLC6A4. The SLC6A1 gene encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft (Hirunsatit et al. , 2009 [PubMed 19077666]).
Antigen Description
Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals. Myoclonic-atonic epilepsy (MAE) [MIM:616421]: A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. Note=The disease is caused by mutations affecting the gene represented in this entry. GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the SLC6A1 gene. GAT1 a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft. The function about SLC6A1 antigen include gamma-aminobutyric acid:sodium symporter activity; neurotransmitter:sodium symporter activity; symporter activity.
Pathway
GABA synthesis, release, reuptake and degradation, organism-specific biosystem; GABAergic synapse, organism-specific biosystem; GABAergic synapse, conserved biosystem; Monoamine Transport, organism-specific biosystem; Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystem; Neuronal System, organism-specific biosystem; Neurotransmitter Release Cycle, organism-specific biosystem.

Citations


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References


Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

AMERICAN JOURNAL OF HUMAN GENETICS

Authors: Galer, Peter D.; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E.; Pendziwiat, Manuela; Helbig, Katherine L.; Ellis, Colin A.; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; Thomas, Rhys H.; Krause, Roland; Weber, Yvonne; Helbig, Ingo

More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle because of a lack of frameworks for analyzing heterogenous clinical data. Here, we analyzed 31,742 Human Phenotype Ontology (HPO) terms in 846 individuals with existing whole-exome trio data and assessed associated clinical features and phenotypic relatedness by using HPO-based semantic similarity analysis for individuals with de novo variants in the same gene. Gene-specific phenotypic signatures included associations of SCN1A with "complex febrile seizures" (HP: 0011172; p = 2.1 x 10(-5)) and "focal clonic seizures" (HP: 0002266; p = 8.9 x 10(-6)), STXBP1 with "absent speech" (HP: 0001344; p = 1.3 x 10(-11)), and SLC6A1 with "EEG with generalized slow activity" (HP: 0010845; p = 0.018). Of 41 genes with de novo variants in two or more individuals, 11 genes showed significant phenotypic similarity, including SCN1A (n = 16, p < 0.0001), STXBP1 (n = 14, p = 0.0021), and KCNB1 (n = 6, p = 0.011). Including genetic and phenotypic data of control subjects increased phenotypic similarity for all genetic etiologies, whereas the probability of observing de novo variants decreased, emphasizing the conceptual differences between semantic similarity analysis and approaches based on the expected number of de novo events. We demonstrate that HPO-based phenotype analysis captures unique profiles for distinct genetic etiologies, reflecting the breadth of the phenotypic spectrum in genetic epilepsies. Semantic similarity can be used to generate statistical evidence for disease causation analogous to the traditional approach of primarily defining disease entities through similar clinical features.

DEVELOPMENTAL REGRESSION PRECEDING SEIZURE ONSET: A GUIDE FOR SLC6A1 MUTATION TESTING IN CHILDREN WITH ATYPICAL MYOCLONIC ASTATIC EPILEPSY

EPILEPSIA

Authors: Taylor, M.; Stewart, F.; Peake, D.

Zhao, Yuan, et al. "SLC6A1‑miR133a‑CDX2 loop regulates SK‑OV‑3 ovarian cancer cell proliferation, migration and invasion." Oncology letters 16.4 (2018): 4977-4983.

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