ABCA13
- Known as:
- ABCA13
- Catalog number:
- 000895A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCA13
Related genes to: ABCA13
- Gene:
- ABCA13 NIH gene
- Name:
- ATP binding cassette subfamily A member 13
- Previous symbol:
- -
- Synonyms:
- FLJ33876, FLJ33951
- Chromosome:
- 7p12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-12-21
- Date modifiied:
- 2015-11-13
Related products to: ABCA13
Related articles to: ABCA13
- ABCA13 encodes ATP-binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare ABCA13 variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmental delay; however, the mode of inheritance remains uncertain, and most published cases have focused on heterozygous variants in the context of a possible dominant or susceptibility model. We report a 5-year-old boy with neurodevelopmental delay, skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing analysis was nondiagnostic. Reanalysis after 6 months identified two rare predicted loss-of-function variants in ABCA13 in trans: c.2510del, p.(Leu837TyrfsTer21), a frameshift variant, and c.12064C>T, p.(Arg4022Ter), a nonsense variant previously reported in a patient with unexplained intellectual disability. The identification of compound heterozygous predicted loss-of-function variants supports the possibility that biallelic disruption of ABCA13 may contribute to neurodevelopmental disease, whereas previously reported heterozygous variants may represent incompletely penetrant risk alleles, susceptibility factors, or candidate findings rather than fully penetrant dominant causes. This case expands the emerging clinical and genetic spectrum associated with ABCA13 and supports further evaluation of a recessive model in patients with intellectual disability and neurodevelopmental delay. - Source: PubMed
Publication date: 2026/09/03
Atanasoska MayaBalabanski LubomirAvdjieva-Tzavella DanielaVeleva TsvetinaStaykova Slavyana YanevaBradinova IrenaToncheva DragaVazharova Radoslava - Chemotherapy resistance and disease progression remain major causes of mortality in osteosarcoma (OS). The miR-16 family is linked to tumors, but the specific function and treatment potential of the miR-16-1-3p passenger strand in OS remain unclear. - Source: PubMed
Publication date: 2026/06/26
Xue WenyuWang YuzhePugacheva PolinaSmirnova Anna VChuprov-Netochin RomanPustovalova MargaritaKuzmin Denis VLeonov Sergey - Pathogenic variants of can increase mutational load within colorectal cells, which may drive initiation and progression of colorectal cancer (CRC). We identified several variants within among CRCs from African Americans (AA). To predict and assess the functional significance of these variants, we employed a combination of in silico analyses and in vitro functionality assays. Our objective was to elucidate the correlation between computational predictions and functional outcomes. - Source: PubMed
Publication date: 2026/06/04
Rashid MudasirBrim HassanTeng ShaoleiSobitan AdebiyiCruz-Cosme RuthQiyi TangKoi MinoruCasazza KatherineSurtees Jennifer ACarethers John MAshktorab Hassan - The clinical utility of integrated proteogenomic biomarkers for predicting chemotherapy response in triple-negative breast cancer remains underexplored. We prospectively analyzed paired baseline and post-treatment tumor samples from 50 patients with stage II-III TNBC treated with anthracycline- and taxane-based neoadjuvant chemotherapy, integrating whole-exome sequencing, RNA sequencing, global proteomics, and phosphoproteomics. - Source: PubMed
Publication date: 2026/04/14
Lee Dong KiKim Min HwanHwang YumiKim Seul-GiRyu Won-JiKim Geon-UkYun Hyun MyoungPark ShinyoungLee Jeong DongHan Hyun JuKim Gun MinKim Kyung-HeePark Jong BaeKim Min JungKoo Ja SeungKim Jee YePark Hyung SeokKim Seung IlGee Heon YungPark SehoSohn Joohyuk - Severe burns are a major global health concern, and are associated with long-term physical and psychological impairments, multi-organ dysfunction, and substantial morbidity and mortality. While burn injuries in adults trigger systemic immuno-metabolic alterations-characterized by white adipose tissue browning, elevated resting energy expenditure, widespread catabolism, and inflammation-these adaptive responses are considerably impaired in older adults, with molecular mechanisms behind these differences remaining largely unclear. As a key regulator of systemic metabolism, investigating the pathological role of adipose tissue (AT) postburn may reveal novel targets that could potentially improve patient outcomes. In this study, we conducted bulk mRNA sequencing and analysis of AT from adult and aged mice to elucidate the transcriptomic changes underlying the distinct postburn responses in these populations. After examining differentially expressed genes in the adult and aged burn mice, the top six upregulated genes in adults (Ucp1, Lgr6, Dio2, Lncbate10, Fabp3, Kng2) were primarily associated with thermogenesis, whereas those in the aged mice (Car6, Spata25, Gm128, Btbd16, Lipm, Abca13) were linked to inflammation, tissue repair, and lipid metabolism. Furthermore, our gene co-expression and enrichment map analysis identified burn-associated modules related to fatty acid oxidation, acetyl thioester CoA, and thermogenesis in adults, whereas leukocyte migration, tumor necrosis factor production, and sister chromatids were in aged mice. Notably, Ppara and Sfpi1 emerged as potential master regulators of co-expressed genes in burn AT of adult and aged mice, respectively. Our findings highlight age-specific differences in burn-induced AT responses and uncover potential molecular regulators that may inform targeted therapeutic strategies to mitigate the post-burn stress response. - Source: PubMed
Bhattachan PunitVlavcheski FilipWojtowicz-Piotrowski StephanieJeschke Marc G