ABCD4
- Known as:
- ABCD4
- Catalog number:
- 000928A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABCD4
Related genes to: ABCD4
- Gene:
- ABCD4 NIH gene
- Name:
- ATP binding cassette subfamily D member 4
- Previous symbol:
- PXMP1L
- Synonyms:
- PMP69, P70R, EST352188
- Chromosome:
- 14q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1997-10-27
- Date modifiied:
- 2016-10-05
Related products to: ABCD4
Related articles to: ABCD4
- The commercial pork production sector prioritizes genetic improvements in lean meat percentage to enhance profitability and meet consumer preferences. The Pietrain pig, a premier terminal sire breed renowned for its exceptional muscularity and leanness, serves as an ideal model to decipher the genetic underpinnings of these traits. This study investigated two key measures of leanness, backfat thickness and loin muscle depth, in two distinct Pietrain populations to elucidate the genetic architecture underlying these traits. We estimated genetic parameters and performed a meta-analysis of genome-wide association studies, identifying ABCD4, LTBP2, NUMB, and SLC30A9 as candidate genes. To further investigate these associations, we integrated information on molecular quantitative trait loci from the PigGTEx project and single-cell transcriptomic resources. This integrative approach prioritized ABCD4 as a key candidate gene regulating backfat thickness. Functional validation in 3T3-L1 preadipocytes revealed a novel dual regulatory role for ABCD4: its knockdown suppressed cell proliferation while simultaneously stimulating adipogenic differentiation, as demonstrated by the upregulation of key markers. Our findings positioned ABCD4 as a critical modulator of fat deposition, likely through its influence on the core adipogenic transcriptional network. By establishing an analytical framework that integrates large-scale sequencing data from Pietrain pigs with functional validation, our study addresses a key gap in understanding the genetic basis of leanness and provides novel insights for precision breeding. - Source: PubMed
Zhan QuanjunXie HongHan HeZhang ZhenyangWei RanLi HaixiaZhao WeiFeng BoHou XiaoliangWang JianlanHe YongqiFu YanGuo XiaolingPan YuchunCao ChongZhang Zhe - The stipe of is a low-value byproduct generated during mushroom processing. Reutilization of this agricultural waste as a functional feed additive may provide both economic and environmental benefits for sustainable aquaculture. This study evaluated the effects of dietary stipe (HMS) supplementation on the growth performance and survival of juvenile Micropterus salmoides and explored the underlying metabolic and transcriptional responses. Juvenile largemouth bass (initial body weight: 1.13 ± 0.05 g) were fed diets containing 0% (HMS0), 5% (HMS5), or 10% (HMS10) HMS for 46 days. HMS supplementation did not significantly affect growth performance but significantly increased survival rate in both HMS5 and HMS10 groups. Widely targeted metabolomic profiling suggested that dietary HMS may drive prominent shifts in the hepatic and gastric metabolic profiles, with potential changes observed in pathways associated with pyrimidine metabolism, glycerophospholipid metabolism, and ABC transporters. Hepatic transcriptomic analysis further identified differentially expressed genes enriched in these pathways. Integrated multi-omics analysis indicated potential coordinated associations between key metabolites, including orotic acid, ureidosuccinic acid, LPG (16:1), and Val-Cys, and genes involved in nucleotide metabolism, lipid metabolism, and transporter functions, such as (dihydropyrimidine dehydrogenase), (nucleoside diphosphate kinase), (ectonucleoside triphosphate diphosphohydrolase 5), (5'-nucleotidase domain containing 2), (glycerol-3-phosphate acyltransferase-like), (ATP-binding cassette subfamily A member 1), and (ATP-binding cassette subfamily D member 4). In addition, antioxidant enzyme activities were significantly enhanced in the HMS5 group, whereas no further improvement was observed at the 10% supplementation level. Collectively, these findings suggest that dietary HMS supplementation may enhance the survival of largemouth bass via coordinated metabolic regulation and antioxidant responses. This study highlights the potential application of mushroom-processing byproducts as sustainable functional feed ingredients in aquaculture. - Source: PubMed
Publication date: 2026/07/13
Lin ErshuWeng KejiaHuang QingyuZhou YingZhuo Yuchen - Homocystinuria is an uncommon metabolic disorder characterized by increased homocysteine concentrations. The condition may arise from mutations in the cystathionine beta-synthase (CBS) gene (classic) or in other genes associated with the cobalamin and folate metabolic pathways (non-classic). This study investigated the genetic diversity and clinical outcomes of homocystinuria in an Iranian pediatric population, exploring genotype-phenotype correlations. A multicenter cross-sectional study carried out from January 2024 to August 2025 at three principal referral centers in Iran. A total of 48 pediatric patients diagnosed with homocystinuria and possessing whole-exome sequencing (WES) results were included. Clinical data, including neurological, ocular, and vascular manifestations, were extracted. The majority (52.1%) of patients in the cohort had B12-related homocystinuria, 25% had CBS-related, and 22.9% had B9-related problems. In most patients (93.7%) at least one neurological symptom was identified, with seizures and developmental delay being the most common. Nine patients (18.7%) had ocular symptoms, 7 patients (14.5%) had skeletal symptoms and skin/hair manifestations were seen in 5 patients (10.4%). Classical homocystinuria was associated with significantly elevated plasma homocysteine levels in comparison to non-classical subtypes (p = 0.011). Novel variants were identified in 10 patients (20.8%), affecting MMACHC , ABCD4 (associated with Cobalamin J type), HCFC1 (associated with Cobalamin X type), CBS, TCN2 and MTHFS genes. This study illustrates the genetic diversity and clinical variability of homocystinuria in Iran. The results highlight the clinical importance of regional genetic databases and whole-exome sequencing in the diagnosis and management of this rare metabolic disorder. - Source: PubMed
Publication date: 2026/07/21
Amirkashani DavoudTavakoli GhazalPeyrovinasab AmirrezaTavakoli ErfanEshraghi PeymanMoravej HosseinVafadar MahdiRezaei FaezehTasharrofi Behnoosh - ATP-binding cassette (ABC) transporters represent one of the largest membrane protein superfamilies in vertebrates, playing essential roles in translocating diverse substrates across membranes. However, knowledge of ABC transporter genes in reptiles remains limited. In this study, we conducted a comprehensive genome-wide identification and characterization of the ABC gene family in oviparous Sphenomorphus incognitus and viviparous Sphenomorphus indicus. A total of 45 ABC genes were identified in each species and classified into seven subfamilies (ABCA-ABCG). Comparative and phylogenetic analyses revealed a generally conserved gene repertoire, with limited duplication events observed mainly in the ABCA and ABCG subfamilies, whereas other subfamilies (e.g., ABCE, ABCF, and ABCD) remained highly conserved. Interestingly, a lineage-specific duplication of ABCC2 was identified in lizards. Oviductal expression profiling revealed distinct temporal patterns of ABC gene expression across reproductive stages. Several genes, including ABCG1, ABCC3, and ABCD4, exhibited conserved expression trajectories across both species, suggesting shared transcriptional regulation. In contrast, ABCA1, ABCB1, and ABCG2 showed species-specific expression patterns, indicating regulatory divergence between the two lizard species. Overall, ABC gene expression was more dynamic in S. incognitus than in S. indicus. In summary, although the ABC transporter family is structurally conserved, it exhibits lineage-specific evolutionary changes and divergent transcriptional regulation in lizard oviducts. This study provides a foundation for understanding the diversity and regulation of ABC transporter genes in reptiles. - Source: PubMed
Publication date: 2026/07/01
Zhang ShufangXu JiahuiHu MengzhenZhou QingyiLi PengWu Yun-HeChen LianLi Hong - Methylmalonic acidemia (MMA), the most prevalent organic acidemia in China, is an autosomal recessive disorder. Neonatal-onset MMA often presents with non-specific manifestation, often causing diagnostic delays. - Source: PubMed
Publication date: 2026/06/05
Xu QunKang LiliYv HuitingLi YunxiaLiu ChenLi XiaoYing