Ask about this productRelated genes to: HEPACAM antibody
- Gene:
- HEPACAM NIH gene
- Name:
- hepatic and glial cell adhesion molecule
- Previous symbol:
- -
- Synonyms:
- FLJ25530, hepaCAM, GLIALCAM
- Chromosome:
- 11q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2007-01-22
- Date modifiied:
- 2014-11-19
Related products to: HEPACAM antibody
Related articles to: HEPACAM antibody
- Following the publication of the above paper, it was drawn to the Editor's attention by a concerned reader that, regarding the immunohistochemical images shown in Fig. 1A on p. 1377, the 'DNMT3A' and 'DNMT3B' images for the 'BN' row of data contained an overlapping section, such that date which were intended to show the results from differently performed experiments had apparently been derived from the same original source. In addition, upon performing an independent analysis of the data in this paper in the Editorial Office, it came to light that the same data had been included for the Petri dish images in Fig. 3B on p. 1382 for the DMSO experiments with the T24 and EJ cell lines, albeit the EJ image had been rotated through 90°. The authors were contacted by the Editorial Office to offer an explanation for this apparent duplication of data within these figures; however, up to this time, no response from them has been forthcoming. Owing to the fact that the Editorial Office has been made aware of potential issues surrounding the scientific integrity of this paper, we are issuing an Expression of Concern to notify readers of this potential problem while the Editorial Office continues to investigate this matter further. [Oncology Reports 35: 1375‑1384, 2016; DOI: 10.3892/or.2015.4492]. - Source: PubMed
Publication date: 2026/04/03
Wang XiaorongChen EYang XueWang YinQuan ZhenWu XiaohouLuo Chunli - Cholesterol is a major astrocyte-derived substance that reprograms neuronal lipid metabolism and regulates neuronal function upon uptake by neurons. However, the mechanisms controlling cholesterol biosynthesis and secretion in astrocytes remain poorly understood. Here, we show that hepaCAM, an astrocytic membrane protein, is essential for normal memory function in mice by maintaining synaptic protein levels and synaptic spine density. Mechanistically, hepaCAM promotes neuronal function by modulating SREBP2-dependent cholesterol biosynthesis in astrocytes and facilitating its subsequent secretion. Furthermore, we identify the interaction of hepaCAM and ClC-2 is required for hepaCAM's regulatory role in cholesterol biosynthesis. Knockdown of hepaCAM in the hippocampus leads to reduced synaptic protein levels, decreased spine density, and impaired memory in mice. Collectively, our findings demonstrate that astrocytic hepaCAM regulates memory function through modulation of the astrocytic cholesterol biosynthesis pathway. - Source: PubMed
Publication date: 2026/01/26
Qiu ZiyuLiu QiangZhang Juan - Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited white matter disorder. Initially, a "classic" phenotype has been characterized, presenting early-onset macrocephaly, cerebellar ataxia, mild spasticity, and a distinctive neuroimaging pattern of diffuse white matter abnormalities with subcortical cysts. An "improving" phenotype has also been described, featuring milder or absent neurological signs and a remitting pattern on neuroimaging. Mutations in four genes, MLC1, HEPACAM, GPRC5B and AQP4 have been associated with MLC. We describe clinical and genetic features of a cohort of genetically confirmed Italian MLC patients, representing the largest Italian cohort reported to date. - Source: PubMed
Publication date: 2026/01/02
Sartorelli JacopoTonduti DavideAmbrosini ElenaBonaventura EleonoraVercellino LuisaVaia YleniaBruschi FabioPochiero FrancescaProcopio ElenaSimonati AlessandroMoroni IsabellaDanti Federica RacheleSeverino MariasavinaPopple Marina MartinezRossi SalvatoreSilvestri GabriellaGaravelli LiviaMadeo SimonaBertini EnricoNicita Francesco - Megalencephalic leukoencephalopathy with subcortical cyst (MLC) is a rare leukodystrophy primarily caused by mutations in two genes: MLC1, encoding a membrane protein of unknown function, and GlialCAM, a cell adhesion molecule. Although MLC1 has been implicated in downregulating signaling pathways, its molecular mechanisms remain elusive. Recently, the orphan G-protein-coupled receptor GPRC5B was identified as a novel interactor of both GlialCAM and MLC1, with dominant heterozygous mutations found in MLC patients, suggesting that GlialCAM and MLC1 may regulate cell signaling via GPRC5B. Here, we show that GPRC5B exhibits constitutive activity, which is inhibited by MLC1, likely through interference with GPRC5B oligomerization. Conversely, GlialCAM enhances β-arrestin 2 recruitment, leading to its own mislocalization from cell-cell junctions. MLC-associated GPRC5B mutants show enhanced maturation and increased stability at the plasma membrane, retain normal constitutive activity and responsiveness to MLC1 and GlialCAM but display increased affinity for GlialCAM and localize to cell-cell junctions in its presence. Notably, coexpression of GlialCAM with these mutants does not induce GlialCAM mislocalization. We propose a model in which finely tuned interactions among GPRC5B, GlialCAM, and MLC1 regulate receptor signaling. These findings provide the first biochemical evidence of GlialCAM and MLC1 modulating GPRC5B activity, suggesting a biochemical explanation for the gain-of-function phenotype observed in GPRC5B MLC mutants. Importantly, our work supports the potential of targeting GPRC5B as a therapeutic strategy in MLC. - Source: PubMed
Publication date: 2025/11/27
Pont-Espinós GuillemPla-Casillanis AdriàFerigle LauraAlonso-Gardón MartaGonzález-Subías MarcElorza-Vidal XabierGaitán-Peñas HéctorErrasti-Murugarren EkaitzChevigne AndyLópez-Hernández TaniaCiruela FranciscoEstévez Raúl - Jacobsen syndrome (JBS) is a rare genetic disorder caused by a terminal deletion on chromosome 11q. It is associated with craniofacial dysmorphisms, congenital anomalies, hematological abnormalities, and neurodevelopmental delays. White matter abnormalities (WMAs) are a less commonly reported feature of JBS, with limited cases documenting their progression via MRI follow-ups. This case report highlights a neonate with JBS presenting with a WMA and correlates the imaging findings with clinical improvement. We report the case of a female neonate born at 37 weeks of gestation with multiple congenital anomalies. She presented with jaundice, respiratory distress, thrombocytopenia, and a systolic murmur. Echocardiography revealed an atrial septal defect and a ventricular septal defect. Dysmorphic features included low-set ears, a depressed nasal bridge, and a prominent philtrum. The patient exhibited left-sided sensorineural hearing loss, hypotonia, and developmental delays. Genetic testing confirmed a terminal deletion at 11q24.1q25, consistent with JBS. The initial MRI demonstrated unmyelinated white matter in the parieto-occipital lobes without structural abnormalities. Ten months later, a follow-up MRI revealed significant improvement in white matter myelination, which correlated with improved developmental and psychomotor outcomes. WMAs in JBS are believed to result from intra-myelinic edema associated with deletions in genes such as HEPACAM/GlialCAM. Early MRI and serial imaging can document evolving WMAs in JBS and may correlate with clinical improvement, and multidisciplinary follow-up is recommended. - Source: PubMed
Publication date: 2025/10/23
Khudhur Hussein WSaeed GhufranAl Zeyoudi FatmahMohamadiyeh Amjad M