Ask about this productRelated genes to: SLC12A8 Blocking Peptide
- Gene:
- SLC12A8 NIH gene
- Name:
- solute carrier family 12 member 8
- Previous symbol:
- -
- Synonyms:
- CCC9
- Chromosome:
- 3q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-05-24
- Date modifiied:
- 2016-02-17
Related products to: SLC12A8 Blocking Peptide
Related articles to: SLC12A8 Blocking Peptide
- Nicotinamide mononucleotide (NMN) plays an important role in enhancing NAD levels and maintaining tissue functions in both mice and humans. Here, we show that NMN stimulates GABAergic neurons expressing , an NMN transporter, in the supramammillary (SuM) nucleus and enhances rapid eye movement (REM) sleep. By juxtacellular recording in the SuM, we have identified bursting slow-oscillation (SO) neurons that discharge in rhythmic theta burst at maximal rates during REM. Their firing frequency significantly decreases in aged mice, and NMN restores it to the level of young mice. The -deficient mice show defects in NMN response, decreased percent theta power during REM sleep, and impaired novel object recognition. Optogenetic stimulation of the SuM GABAergic neurons projecting to the cortex triggers cortical SO and theta rhythm, whereas chemogenetic inhibition of those neurons predominantly decreases REM sleep. These findings suggest that NMN stimulates SuM bursting SO neurons and promotes REM sleep during aging. - Source: PubMed
Publication date: 2026/04/15
Cissé YoussoufBrace Cynthia SHsu VirginiaYuede Carla MRensing NicholasWong MichaelImai Shin-Ichiro - To investigate the role and mechanism of SLC12A8 in the progression of Luminal B breast cancer. - Source: PubMed
Liu ZhiyongChen Ran - Stomatocytosis is a rare spectrum of red blood cell (RBC) disorders. In humans, stomatocytosis is typically caused by genetic changes in specific ion exchange and transport genes. Stomatocytosis has been identified in dogs, however the underlying genetic causes are unknown. Recently, stomatocytosis was reported in a Beagle and Australian Cattle Dog for the first time. Here, whole-genome sequencing (WGS) of these dogs was undertaken to identify candidate genetic variants driving or impacting stomatocytosis. Cases were compared to WGS of 119 controls of several breeds and > 1,000 dogs from public and private datasets. Candidate genes were identified, including genes linked to stomatocytosis in humans: SPTB and KCNN4. Notably, each case carried a different homozygous intronic SNP in SPTB only 24 bases apart (Beagle - chr8:39,194,923; ACD - chr8:39,194,947; CanFam3.1), which were not homozygous in other dogs. Variants with predicted deleterious impact in additional ion transport-related genes were also identified: SLC8A3, DYSF, SLC12A8, INPP5E, SLC1A1, and a novel SLC41A3 genetic change carried by the Australian Cattle Dog. Human and mouse scRNAseq and proteomics data indicate that these candidate genes are expressed in RBCs or their immature precursors. Taken together, these genetic data obtained from spontaneous stomatocytosis in a non-human species provide novel insights and candidate genes for evaluation of rare red cell disorders in humans. - Source: PubMed
Publication date: 2025/02/08
Wallace M DFalcone SCastillo DWilliams T LDavison L J - Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication, restricted interests, and repetitive behaviors. Despite considerable research efforts, the genetic complexity of ASD remains poorly understood, complicating diagnosis and treatment, especially in the Arab population, with its genetic diversity linked to migration, tribal structures, and high consanguinity. To address the scarcity of ASD genetic data in the Middle East, we conducted genome sequencing (GS) on 50 ASD subjects and their unaffected parents. Our analysis revealed 37 single-nucleotide variants from 36 candidate genes and over 200 CGG repeats in the gene in one subject. The identified variants were classified as uncertain, likely pathogenic, or pathogenic based on in-silico algorithms and ACMG criteria. Notably, 52% of the identified variants were homozygous, indicating a recessive genetic architecture to ASD in this population. This finding underscores the significant impact of high consanguinity within the Qatari population, which could be utilized in genetic counseling/screening program in Qatar. We also discovered single nucleotide variants in 13 novel genes not previously associated with ASD: , , , , , , , , , , , , and . Our investigation categorized the candidate genes into seven groups, highlighting their roles in cognitive development, including the ubiquitin pathway, transcription factors, solute carriers, kinases, glutamate receptors, chromatin remodelers, and ion channels. - Source: PubMed
Publication date: 2024/10/27
Ben-Mahmoud AfifGupta VijayAbdelaleem AliceThompson RichardAden AbdiMbarek HamdiSaad ChadiTolefat MohamedAlshaban FouadStanton Lawrence WKim Hyung-Goo - Clear cell renal cell carcinoma (ccRCC) is a renal cortical malignancy with a complex pathogenesis. Identifying ideal biomarkers to establish more accurate promising prognostic models is crucial for the survival of kidney cancer patients. - Source: PubMed
Publication date: 2024/08/30
Yu JunxiaoZhao BowenYu You