APOA1BP
- Known as:
- APOA1BP
- Catalog number:
- 001763A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- APOA1BP
Related genes to: APOA1BP
- Gene:
- NAXE NIH gene
- Name:
- NAD(P)HX epimerase
- Previous symbol:
- APOA1BP
- Synonyms:
- AIBP, MGC119143, MGC119144, MGC119145, YJEFN1
- Chromosome:
- 1q22
- Locus Type:
- gene with protein product
- Date approved:
- 2002-08-01
- Date modifiied:
- 2016-10-05
Related products to: APOA1BP
Related articles to: APOA1BP
- Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare neurodegenerative disorder caused by pathogenic variants in gene. Movement disorders are among the clinical features of PEBEL1; however, no case presenting with paroxysmal exercise-induced dyskinesia (PED) has been reported. We reported the case of a 14-year-old girl who presented with PED episodes. Six months after the onset of episodes, she developed encephalopathy and focal status epilepticus. Exome sequencing analysis identified a homozygous pathogenic variant in gene, and she was diagnosed with PEBEL1. She was started on mitochondrial cocktail and multiple antiseizure medications; however, no response was observed. With the ketogenic diet (KD), seizure control was achieved and improvement in cognitive functions was observed. PED is a clinical feature not previously reported in PEBEL1 cases, and our case expands the phenotypic spectrum of this disorder. Additionally, our case highlights that KD may be a treatment option in PEBEL1. - Source: PubMed
Publication date: 2026/07/24
Altıntaş MertYıldırım MiraçBektaş ÖmerEyduran EdaErgin BatuhanKarabulut Halil GürhanKöse EnginEminoğlu Fatma TubaKendirli TanılTeber Serap - NAD(P)HX epimerase (NAXE) deficiency is a rare, often fatal, autosomal recessive neurometabolic disorder of early childhood, characterized by acute neurological regression triggered by febrile illness. Here, we report a case with compound heterozygous NAXE mutations (c.733A > C and c.389A > C) associated with a milder phenotype, thereby expanding the known disease spectrum. - Source: PubMed
Publication date: 2026/02/09
Zhu YanjieHe PeifengLuo RongChen Xiaolu - The vital cofactors NADH and NADPH are prone to hydration, forming hydroxylated redox-inactive derivatives (NADHX and NADPHX) in cells. These damaged metabolites are repaired by two highly conserved enzymes, an NAD(P)HX dehydratase (NAXD) and an NAD(P)HX epimerase (NAXE). Mutations in NAXE or NAXD cause early onset progressive encephalopathy (PEBEL1 or PEBEL2), typically induced by fever or other triggers, and leading to premature death. To advance our comprehension of the disease mechanism and investigate potential therapeutic strategies, we generated zebrafish lines deficient in naxe or naxd using CRISPR/Cas9 technology. While both models accumulated NADHX, only naxd larvae developed a severe phenotype, showing reduced locomotion and early death, which was partially rescued by nicotinic acid supplementation. Both mutant lines displayed signs of dysregulated immune function based on gene expression analyses and increased neutral red staining in the head region, indicating an increased number or activation of microglial cells. Our findings suggest that immune system perturbations play a role in PEBEL disease development, aligning with its inflammatory trigger-induced nature in humans. The naxd model's responsiveness to nicotinic acid underscores its utility for preclinical drug screening. Overall, these models will be instrumental in furthering our understanding of PEBEL disease mechanisms and enhancing translational research efforts. - Source: PubMed
Patraskaki MyrtoSeyedkatouli NajmesadatSchlicker LisaWarmoes Marc OCordero-Maldonado Maria LorenaHeins-Marroquin UrsulaLinster Carole L - OBJECTIVE: This study aims to explore the clinical characteristics of patients with NAD(P)HX metabolic deficiency and their prognosis after nicotinamide treatment. METHODS: This study retrospectively analyzed the clinical characteristics, efficacy of nicotinamide treatment, and prognosis of patients with genetically confirmed NAD(P)HX metabolic defects admitted to Beijing Children’s Hospital from January 2016 to January 2025, as well as cases previously reported in the literature. The log-rank test was used for survival analysis, and the prognosis was evaluated using the Modified Rankin Scale (mRS). RESULTS: Nine patients were analyzed, including eight with NAXE deficiency and one with NAXD deficiency, seven of whom received nicotinamide treatment (180–500 mg/day). With a median follow-up of 3.92 years [range: 0.50–6 years, interquartile range (IQR) = 2.42 years], the overall prognosis was favourable. All seven treated patients survived, three of whom were able to attend school normally, and no significant adverse reactions were observed during treatment. Combined with previous studies, a total of 59 patients were included for analysis (14 cases of NAXD deficiency and 45 cases of NAXE deficiency), with an overall mortality rate of 66.7%. Among the 21 patients who received niacin/nicotinamide treatment, 17 survived (80.95%), whereas only two untreated patients survived, and 85.45% of the untreated patients died within 2 years of onset. Respiratory failure was the most common cause of death. CONCLUSIONS: NAD(P)HX metabolic defects are rare mitochondrial diseases with high mortality and morbidity rates. Early identification and timely initiation of nicotinamide treatment are crucial for improving patient prognosis and quality of life. - Source: PubMed
Publication date: 2026/01/23
Xu ChaolongJin HongLi JiuweiLiu ZhimeiZhang WeihuaZhou JiDuan RuoyuLiu YangSong MinhanZhang ZixuanLi TongyueShen DanminZou YingWang JunlingLi HuaJiang HuafangFang Fang - Semen quality serves as a vital indicator of male fertility, yet its underlying genetic and regulatory mechanisms remain poorly understood. Here, 1.15 million records of six semen quality traits from 14 210 boars in four distinct breeds were collected. These traits have low to moderate heritability (0.12-0.26), and are genetically correlated with growth traits like average daily gain. Genome-wide association study (GWAS) and multi-breed meta-analysis detected 234 loci associated with semen quality. Systematic integration of the Pig Genotype-Tissue Expression resource with these GWAS loci allowed the prioritization of 93 causal variants targeting 134 genes. For instance, the expression quantitative trait loci (eQTL) of NAXE in multiple tissues were colocalized with a GWAS loci of the number of sperms, while eQTL of LEFTY2 in the testis was exclusively colocalized with in a GWAS loci of semen volume. Through examining GWAS of semen quality traits in cattle and human complex traits, the ortholog genes (e.g., AURKAIP1 and ADRA2A) significant in pigs also regulated bovine semen quality, and were significantly enriched for heritability of human birth weight and height. This study provides novel insights into semen quality traits in mammals, which will provide candidate genes for pig selective breeding and potential targets for human male infertility research. - Source: PubMed
Publication date: 2026/01/08
Lin QingCai XiaodianZhong ZhanmingLi TingtingChen XinyouAyalew WondossenXu ZhitingWei ChenZhang XiaokeCheng HongZhang ZhenyangLi XuehuaTang YongjieChen SiqianZhou JunSi JingleiWu XiboNing ChaoWang QishanPan YuchunGao YahuiLi JiaqiYu YingZhang ZheZhao YunxiangFang LingzhaoZhang Zhe