KIF12 antibody - N-terminal region (ARP33945_P050)
- Known as:
- KIF12 (anti-) - N-terminal region (ARP33945_P050)
- Catalog number:
- arp33945_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- KIF12 antibody - N-terminal region (ARP33945_P050)
Related genes to: KIF12 antibody - N-terminal region (ARP33945_P050)
- Gene:
- KIF12 NIH gene
- Name:
- kinesin family member 12
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 9q32
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-18
- Date modifiied:
- 2016-10-05
Related products to: KIF12 antibody - N-terminal region (ARP33945_P050)
Related articles to: KIF12 antibody - N-terminal region (ARP33945_P050)
- Progressive familial intrahepatic cholestasis (PFIC) is an inherited disorder affecting bile acid secretion, with a heterogenous clinical presentation including pruritus, jaundice, growth failure, hepatosplenomegaly, and cirrhosis. Most patients present in infancy or early childhood, leading to progressive liver disease and potentially liver failure, often requiring liver transplantation. We present a 14-year-old girl with incidentally detected cholestasis. She had no previous jaundice, abdominal pain, clay stools, or pruritus. Hypergammaglobulinemia and a positive antinuclear antibody titer was found on testing. Liver biopsy revealed bile duct destruction and interface hepatitis, which initially led us to suspect an autoimmune hepatitis-primary sclerosing cholangitis overlap. However, her poor response to steroids over 6 weeks led us to perform whole exome sequencing, which found a homozygous mutations of KIF12(-) gene at intron 9, suggestive of PFIC-8. This case highlights the importance of genetic testing in atypical cholestasis, particularly in adolescents who do not respond to empirical therapy. - Source: PubMed
Publication date: 2026/03/23
Lk PragathiPoyekar SamriddhiGandhi DhruvKalawadia SachiShah Ira - To explore the clinical phenotype and genetic characteristics of a child with Progressive familial intrahepatic cholestasis type 8 (PFIC8). METHODS A child with PFIC diagnosed at Beijing Children's Hospital Affiliated to Capital Medical University in September 2025 was selected as the study subject. Peripheral venous blood samples were collected from the child and her parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was classified based on the guidelines from American College of Medical Genetics and Genomics (ACMG). This study was approved by the Medical Ethics Committee of Beijing Children's Hospital Affiliated to Capital Medical University (Ethics No.: 2023-E-126-Y). - Source: PubMed
Sun DayanZhang ShixuanLiao JunminLi ShuangshuangWang DingdingZhang Ya'nanGu YichaoHua KaiyunHuang JinshiZhao Yong - To explore the clinical manifestation and genotype of a child with Progressive familial intrahepatic cholestasis 8 (PFIC8) due to variant of KIF12 gene. - Source: PubMed
Zhou XiaoyingZhang JunZhang Wenting - Neonatal cholestasis is a group of disorders characterised by conjugated hyperbilirubinemia in the newborns and young infants. Advances in genetic testing have facilitated the identification of specific aetiology. This study examines the genetic and clinical profiles of neonates with cholestasis, focusing on genotype-phenotype correlations and diagnostic outcomes. - Source: PubMed
Publication date: 2025/04/29
Gürcan Kaya NeslihanÖztürk HakanSarı SinanEğritaş Gürkan ÖdülDalgıç Buket - As a common cause of liver cirrhosis, metabolic dysfunction-associated steatohepatitis (MASH) is regarded as a target of therapeutic intervention. However, a successful therapy has not yet been found, partly because the molecular pathogenesis is largely elusive. Here we show that KIF12 kinesin suppresses MASH development by accelerating the breakdown of two lipid biosynthesis enzymes, acetyl-CoA carboxylase 1 (ACC1) and pyruvate carboxylase (PC), in hepatocytes. We report three familial early-onset liver cirrhosis pedigrees with homozygous KIF12 mutations, accompanying MASH-like steatosis and cholestasis. The mouse genetic model carrying the corresponding Kif12 nonsense mutation faithfully reproduced the phenotypes as early as between 8 and 10 weeks of age. Furthermore, KIF12-deficient HepG2 cells exhibited significant steatosis, which was ameliorated by overexpressing a proline-rich domain (PRD) of KIF12. We found that KIF12-PRD promotes the degradation of ACC1 and PC, and this effect is likely to be through its direct interaction with these enzymes. Interestingly, KIF12 enhanced the ubiquitination of ACC1 by the E3 ligase COP1 and colocalized with these proteins as seen by super-resolution microscopy imaging. These data propose a role for KIF12 in suppressing MASH by accelerating turnover of lipogenic enzymes. - Source: PubMed
Publication date: 2025/02/07
Etemad AsiehTanaka YosukeWang ShuoSlae MordechaiSultan MutazElpeleg OrlyHirokawa Nobutaka