Ask about this productRelated genes to: HAX1 antibody
- Gene:
- HAX1 NIH gene
- Name:
- HCLS1 associated protein X-1
- Previous symbol:
- -
- Synonyms:
- HS1BP1, HCLSBP1
- Chromosome:
- 1q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-19
- Date modifiied:
- 2019-04-23
Related products to: HAX1 antibody
Related articles to: HAX1 antibody
- Molecular mechanisms underlying congenital neutropenia in patients with HAX1 deficiency are not clear at the moment. HAX1 deficiency was shown to result in the arrest of neutrophil differentiation. Our studies of the effect of HAX1 deficiency on the proteomic and metabolic profiles of promyelocytic cells have led to the conclusion, supported by specific tests, that fatty acid metabolism is affected in HAX1 KO cells. The lipid droplet content is increased in HAX1 KO cells, pointing to the accumulation of fatty acids that are not metabolized. Studies of autophagosome function in HAX1 WT and KO cells revealed that lipid droplet autophagy is defective at the stage of fusion with the lysosome. Autophagy-dependent generation of free fatty acids is critical for neutrophil differentiation, so HAX1 deficiency that affects normal autophagy of lipids in promyeloblasts should explain differentiation arrest. Moreover, we have demonstrated that HAX1-deficient cells are also compromised in fatty acid uptake. - Source: PubMed
Publication date: 2026/05/05
Wakula MaciejJablonowska MilenaChmielarczyk MateuszTarnowski LeszekKulinczak MariuszSitkiewicz EwaSwiderska BiankaSamborowska EmiliaRadkiewicz MariuszKianfar MostafaStatkiewicz MalgorzataRumienczyk IzabelaBalcerak AnnaKonopinski RyszardTrebinska-Stryjewska AlicjaGrzybowska Ewa A - Newborns' intestinal adhesions have been reported in 4.7% infants who underwent a laparotomy, but adhesions can also appear idiopathically. Etiology and pathogenesis of adhesions is still to be determined, but evidence shows relation to inflammation, formation of fibrin bands, hypoxia and tissue remodelation. Multiple candidate genes have been associated with adhesion development. The aim of this study was to evaluate the appearance of Sonic Hedgehog (SHH), Indian Hedgehog (IHH), Forkhead-box F1 (FOXF1), caudal type homeobox 1 (CDX1), HCLS1-associated protein X-1 (HAX-1), GATA Binding Protein 4 (GATA4) and Granzyme-B (GZMB) proteins in infant adhesions and to describe possible interfactorial correlations. Adhesion affected tissue samples were collected from 14 patients under one year of age that underwent abdominal surgery to treat partial or complete intestinal obstruction. The control group consisted of 6 individuals that had surgical repairment of inguinal hernia. Routine staining and immunohistochemistry were performed. Immunopositive fibroblasts, macrophages, endotheliocytes, smooth muscle myocytes of blood vessel wall and mesotheliocytes were investigated. The relative distribution of all factors was evaluated by the semiquantitative counting method. Statistical analysis was done using non-parametric tests and correlations were calculated based on Spearman's correlation analysis. A statistically significant decrease was observed for SHH, IHH, FOXF1, GATA4 and partially for GZMB in the adhesion group. There were also decreased HAX-1 and CDX1 immunopositive structures in the adhesion group, however, without any statistical significance. SHH, IHH, FOXF1, GATA4 and GZMB might have a role in adhesion development among infant patients which could suggest a dysregulation of cellular events. Abundance of correlations between the gene protein appearances in different structures indicate the affected blood vessels, fibroblasts and macrophages, however, mesothelium seems not to be the key driver in the morphopathogenesis of adhesion development. - Source: PubMed
Publication date: 2026/02/10
Pauliņš ArvisJunga AnnaPilmane Māra - Kostmann syndrome, also known as severe congenital neutropenia, is a congenital disorder characterized by genetic mutations that prevent the progression of myeloid differentiation in the bone marrow. Most cases are associated with specific genetic mutations, including those in HAX1 and ELANE. Treatment with antibiotics and granulocyte colony-stimulating factor (G-CSF) is primarily prophylactic. We report a pediatric case of severe congenital neutropenia present since birth, with negative whole-exome sequencing (WES), complicated by multiple hospital admissions for recurrent infections and subsequent progression to myelodysplastic syndrome with excess blasts associated with monosomy 7, for which the patient ultimately underwent hematopoietic stem cell transplantation (HSCT). This case highlights that many patients with Kostmann syndrome can present with negative genetic testing and draws attention to the importance of surveillance for malignant transformation. - Source: PubMed
Publication date: 2026/01/28
Albar Rawia FAbdulaziz Abdulaziz AMerdad Abdulrahman HFelemban Badr S - Alzheimer's disease (AD) is neurodegenerative disorder characterized by chronic inflammation in the brain. Chitinase-3-like 1 (CHI3L1), a secreted glycoprotein that is upregulated in a variety of diseases with chronic inflammation, represents a promising target for AD. Here, we studied the inhibitory effect of a novel CHI3L1 monoclonal antibody (H1) on memory impairment and neuroinflammation in Tg2576 transgenic mice. - Source: PubMed
Publication date: 2026/01/07
Ham Hyeon JooPark Seung SikLee Yong SunKim Tae HunSon Dong JuKim Ji-HunLim Key-HwanPark HanseulLee Hye JinYun JaesukHan Sang-BaeChoi Min KiHong Jin Tae - Periodontitis is characterized by periodontal tissue destruction and subsequent tooth loss, significantly impacting quality of life. The potential of HAX1, a gene implicated in periodontitis pathogenesis, to modulate the differentiation of periodontal ligament stem cells (PDLSCs) and its therapeutic potential remains unexplored. - Source: PubMed
Publication date: 2026/01/06
Hao PeiqiZhang Xin-YuWang MengtingBao FanGuo Hui