Ask about this productRelated genes to: SLC10A1 antibody
- Gene:
- SLC10A1 NIH gene
- Name:
- solute carrier family 10 member 1
- Previous symbol:
- -
- Synonyms:
- NTCP
- Chromosome:
- 14q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-02-16
- Date modifiied:
- 2018-08-01
Related products to: SLC10A1 antibody
Related articles to: SLC10A1 antibody
- To explore the genetic factors contributing to unexplained infant jaundice and evaluate the significance of gene screening related to jaundice. - Source: PubMed
Publication date: 2026/04/13
Gao FangjianLi ShuyanChen YaliZhou YantingHu LiQiu Jianwu - Chronic liver disease (CLD) is a major global health burden, causing ~ 2 million deaths annually. In a substantial proportion of cases, extensive hepatology and metabolic evaluations fail to determine the etiology, leading to classification as idiopathic liver disease, which may harbor rare genetic causes. This study assessed the clinical utility of whole-exome sequencing (WES) and clinical-exome sequencing (CES) in idiopathic liver disease patients and explored candidate variants using in silico approaches. - Source: PubMed
Bozkurt Kekilli SerayKaralar Pekuz Ozge KamerKekilli ArdaBinicier Hatice CilemSahin Uyar Sibel BurcakOzkan EtkinArslan Gülten ZumrutAydogan AycaAkarsu MesutArslan NurUlgenalp AyferCaglayan Ahmet Okay - Both Sodium Taurocholate Cotransporting Polypeptide Deficiency (NTCPD) and Glycogen Storage Disease Type VI (GSD-VI) are autosomal recessive (AR) genetic disorders that affect liver metabolism in newborns. NTCPD is primarily caused by mutations in the Solute Carrier Family 10 Member 1 (SLC10A1) gene, resulting in decreased bile acid transport function, while GSD-VI is caused by mutations in the phosphorylase glycogen liver (PYGL) gene, leading to a deficiency of liver glycogen phosphorylase. Both diseases are rare, and there have been no previous reports of their coexistence in a single patient. This case report details the rare occurrence of NTCP and GSD-VI in a 2-year-11-month-old female child. The patient presented with mild jaundice, hepatomegaly, and growth retardation. After 1 year and 6 months of treatment and follow-up, the patient's liver function and growth showed significant improvement. This case highlights the importance of comprehensive genetic analysis in diagnosing complex metabolic disorders. - Source: PubMed
Publication date: 2026/03/01
Wang MeifenWang MingyingLi JuanChen RuiBi ZhongruiJiang HongchaoLi Jiwei - Malignant melanoma remains a major challenge in oncology, largely due to the limited efficacy and significant toxicity associated with treatments such as temozolomide (TMZ). Si-Jun-Zi-Tang (SJZT), a traditional Chinese medicine formula with documented anti-cancer properties, has shown potential in enhancing chemotherapy effectiveness and reducing treatment-related toxicity. - Source: PubMed
Publication date: 2026/02/24
Li Amy Sze ManWang LiFan Xiao-YunWang Xiao-QiWu YingWu Jia-YingBai Jing-XuanHan Rui-XuanHe Jin-JinFu Xiu-QiongYu Zhi-Ling - Constitutional indocyanine green excretion defect (CIED) is a rare disorder characterized by markedly delayed plasma indocyanine green disappearance (ICG-R15 > 50%) despite normal results from conventional liver function tests. We present case a case involving 60-year-old woman diagnosed with CIED, which represents the first documented case in a Chinese patient without any underlying liver disease. This case expands the recognized geographic and epidemiologic spectrum of CIED. Whole-exome sequencing revealed no deletions or pathogenic variants in genes encoding established ICG transporters [SLCO1B1 (OATP1B1), SLCO1B3 (OATP1B3), SLC10A1 (NTCP), and ABCC2 (MRP2)], excluding conventional mechanistic explanations. Our integrated clinical and molecular characterization offers novel insights into this rare disorder. These findings suggest a novel pathogenesis independent of known transporter deficiencies, highlighting the need for further research and underscoring the importance of integrating multidimensional clinical data for accurate interpretation of ICG test results. - Source: PubMed
Publication date: 2026/02/09
Ma XueyingTian FeiZhou ShuanghaoLi JianjunLiu YankunHui YingMa Xiangming