ABCD4 Antibody
- Known as:
- ABCD4 Antibody
- Catalog number:
- AF1013a
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- ABCD4 Antibody
Related genes to: ABCD4 Antibody
- 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 Antibody
Related articles to: ABCD4 Antibody
- Correct trafficking of lysosomal transporters is essential for intracellular homeostasis. While most lysosomal membrane proteins are directed to the lysosome via sorting motifs, the cobalamin exporter ABCD4 is distinct, instead relying on LMBD1 as a dedicated chaperone for its trafficking. Dysfunction of either protein causes inherited cobalamin metabolism disorders. Despite its physiological significance, the molecular mechanism underlying this chaperone-dependent trafficking remains unclear. Here, we report the cryo-EM structures of ABCD4 complex with LMBD1 in the lumen-open, substrate-bound and cytosol-open states. LMBD1 contains nine transmembrane-helices (TMs) and a cytosolic domain, both of which engage ABCD4. Cell imaging shows that disruption of these interactions impairs the trafficking of ABCD4 to lysosomes. Structural and biochemical analyses provide insights into cobalamin recognition and reveal conformational states associated with the proposed cobalamin transport cycle. These findings provide molecular insights into cobalamin metabolism and illustrate a chaperone-assisted mechanism that supports proper trafficking of a lysosomal transporter. - Source: PubMed
Publication date: 2026/06/16
Liu QiweiLi XingfanWu YingjieZheng KaiZhou MiLong Tao - Total rib number (TRN) and total teat number (TTN) are key anatomical and economic traits in pigs, linked to carcass yield and reproductive performance, respectively, and are genetically correlated. However, the shared genetic basis underlying these traits remains incompletely understood. This study aimed to dissect the genetic architecture of TRN and TTN and to identify pleiotropic genes affecting both traits. Single-population genome-wide association studies (GWASs), multi-population meta-analysis, and multi-trait meta-analysis were conducted using phenotypic and genotypic data from three pig populations: Yorkshire (YY, n = 413), Suhuai (SH, n = 655), and Landrace × Yorkshire (LY, n = 678). Significant genetic and phenotypic correlations were observed between TRN and TTN, with genetic correlations of 0.82 in YY, 0.46 in SH, and 0.35 in LY. Ten quantitative trait loci (QTLs) associated with TRN were identified, including novel loci on SSC2 (39.38-40.49 Mb), SSC3 (123.79-125.58 Mb), SSC6 (103.40-104.53 Mb), SSC12 (53.30-54.84 Mb), and SSC18 (45.29-46.91 Mb). For TTN, eight QTLs were detected, including three newly discovered regions on SSC13 (142.82-143.99 Mb), SSC14 (7.26-8.54 Mb), and SSC16 (10.19-12.18 Mb). Candidate genes were identified through functional annotation and phenome-wide association analysis. For TRN, the prioritised genes included GREB1, SMCHD1, HES7, VRTN, ABCD4, NTN1, and members of the HOX gene family, whereas for TTN, the identified genes included FRMD4A, STC1, GREB1, and ABCD4. Colocalisation analysis integrating GWAS and multi-tissue expression QTL data suggested shared genetic signals for several genes, including EMILIN2, PTGR2, PSEN1, and ABCD4 for TRN, and PTGR2 and ENSSSCG00000033037 for TTN. Notably, GREB1, PTGR2, and ABCD4 were identified as pleiotropic genes potentially regulating both traits. These results clarify the shared genetic architecture of rib and teat number and provide candidate genes for future functional validation and genetic improvement in pig breeding. - Source: PubMed
Publication date: 2026/04/29
Liu QYu JYin YChen JXu LMa JZhou JZhao QHuang RLi P - Advanced paternal age compromises male fertility and correlates to a decline of the deacetylase SIRT1 activity, a central regulator of germline homeostasis and chromatin dynamics. Acetylation imbalance has been pointed out as a driver of testicular aging. We therefore asked whether SIRT1 insufficiency reproduces aging-associated shifts in the acetylation landscape and how these might propagate to sperm function, fertilization capacity and embryo development. To address this, we combined acetylomic profiling of Sirt1+/− and naturally aged mice with functional assays of sperm quality and in vitro fertilization (IVF). Both Sirt1+/− and aged wild type (WT) testes shared a distinct acetylation signature absent in young WT controls, including nuclear regulators (ZNF638, MORC4), proteins involved in sperm structure and motility (Rootletin, Kinectin, CFAP58), and phosphoinositide signaling mediators such as PLCη1, which regulate intracellular Ca2 + release. Conversely, 22 proteins displayed acetylation exclusively in WT controls but were absent in Sirt1+/− and aged testes, encompassing modules related to flagellar organization (CEP170, CEP350, AKAP13), meiotic control (ANAPC7, PDS5B, ESCO1, CENPE), signaling and metabolism (SHIP1, GAK, ABCD4), chromatin regulation (BRD4, MAGEB4), and testicular architecture (MFAP2). This differential acetylomic profile persisted in mature sperm, with Sirt1+/− males showing elevated acLys levels and, more specifically, midpiece-restricted α-tubulin hyperacetylation, a pattern particularly shared with aged cohorts. Notably, this tubulin hyperacetylation remained after capacitation and correlated with mitochondrial dysfunction, elevated reactive oxygen species, reduced acrosome responsiveness, and diminished fertilization capacity. IVF assays further revealed decreased cleavage and blastocyst developmental rates, indicating defective paternal support of early embryogenesis despite preserved blastocyst quality. Together, these findings indicate that testicular SIRT1 contributes to germline acetylation patterns and that midpiece-restricted α-tubulin hyperacetylation is a shared feature of SIRT1 insufficiency and natural aging, correlating with the mitochondrial dysfunction and impaired sperm performance. Overall, our work broadens current understanding by integrating acetylomic and functional evidence within a model that reflects the physiological, age-related reduction of SIRT1. - Source: PubMed
Publication date: 2026/03/25
Iniesta-Cuerda MaríaValentova IvetaMoravec JiříLiška FrantišekKrálíčková MilenaKrapf DarioNevoral Jan - is a globally distributed whitefly species and a significant agricultural pest, yet the genomic and functional roles of its obligate endosymbiont remain poorly understood. The primary endosymbiont of whiteflies belongs to the genus Portiera. is essential for host survival, providing nutritional supplementation and facilitating ecological adaptation, but its evolutionary dynamics and host-specific adaptations in are largely unexplored. Comparative genomic studies of from other whitefly species have revealed distinct evolutionary patterns, yet no such data exist for , highlighting a critical knowledge gap. - Source: PubMed
Publication date: 2026/01/22
Wang Yu-YiChen Yi-JiaWang Hua-LingZhu Cheng-ChengLei TengLiu Yin-Quan - Pigs play a vital role in global food security as a major source of animal protein. Enhancing growth and reproductive traits is of great economic importance to the swine industry. To systematically identify genetic determinants underlying key economic traits, we performed an integrative multi-omics analysis in a population of 1624 Duroc pigs, focusing on backfat thickness (BF), loin muscle area (LMA), and total teat number (TTN). Our genome-wide association study (GWAS) identified twenty-one significant single nucleotide polymorphisms (SNPs)-fourteen for BF, three for LMA, and seven for TTN. Candidate genes located within 1 Mb of these SNPs, such as and for BF, for LMA, and and for TTN, were further investigated. Functional genomic annotations revealed that genetic variants near the significant SNPs were enriched in tissue-specific enhancer elements, implying regulatory potential. Transcriptome-wide association study (TWAS) further supported the candidate genes such as and for TTN and predicted several putative functional mutations that may affect transcription factor binding sites. This study demonstrates the power of integrative genomics to prioritize candidate genes and causal variants for animal complex traits, offering valuable resources for future precision breeding in pigs. - Source: PubMed
Publication date: 2025/12/17
Yan ZhuofanLi XiyueYang WenboZhou PengZhang WeiyaLi XinyunFu LiangliangLi JingjinDu Xiaoyong