ANKRD11
- Known as:
- ANKRD11
- Catalog number:
- 001603A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ANKRD11
Related genes to: ANKRD11
- Gene:
- ANKRD11 NIH gene
- Name:
- ankyrin repeat domain 11
- Previous symbol:
- -
- Synonyms:
- LZ16, T13
- Chromosome:
- 16q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-15
- Date modifiied:
- 2015-08-24
Related products to: ANKRD11
Related articles to: ANKRD11
- CD8 T cell dysfunction is a major obstacle to hepatitis B virus (HBV) clearance and antitumor immunity. Here, using a humanized mouse model, we identify a T cell receptor targeting a clinically relevant HBV epitope and reveal ANKRD11 as a key epigenetic regulator of CD8 T cell dysfunction in chronic infection and tumors. Ankrd11 knockout in CD8 T cells enhances HBV-specific T cell proliferation and effector differentiation, especially under immunosuppressive conditions, via AP-1 family gene upregulation. Loss of Ankrd11 both drives the conversion of progenitor exhausted T cells into terminally exhausted T cells, and reprograms PD-1TOX tolerant cells into functional effectors, improving antiviral and antitumor responses. Ankrd11-deficient T cells show increased granzyme and superior effector function, enhancing viral control and tumor regression. These findings position ANKRD11 as a promising immunotherapy target for chronic HBV infection and cancer. - Source: PubMed
Publication date: 2026/09/11
Xu WeiGuo JieCao XueLi LipingXiao PeiZhang XinchaoJin QiuzhuZhang FupingHou BaidongLi MinghuiZhou Xuyu - KBG syndrome (KBGS) is a neurodevelopmental disorder caused by (ankyrin repeat domain-containing protein 11) haploinsufficiency. Its broad phenotypic variability and overlap with other types of chromatinopathies frequently hinder clinical recognition, and genotype-phenotype associations remain limited. The present study aimed to characterize the clinical and molecular features of individuals with KBGS and expand the craniofacial phenotype using two-dimensional (2D) facial morphometry. The present retrospective study involved patients with molecularly confirmed KBGS evaluated between January 2017 and February 2025 at Fundación Valle del Lili (Cali, Colombia). Detailed developmental, craniofacial, skeletal, neurological and behavioral features were documented. Molecular diagnoses were established using clinical exome sequencing. Craniofacial differences were quantified using 2D morphometric analysis. A systematic review of the literature was performed to compare the prevalence of clinical manifestations observed in the present cohort with previously reported cohorts. All 10 individuals carried pathogenic or likely pathogenic variants, including multiple novel frameshift mutations. Developmental delay and intellectual disability were universal. Recurrent clinical findings included facial asymmetry, low hair implantation, bulbous nasal tip, synophrys, scoliosis, seizures, behavioral disturbance and hearing impairment. Morphometric analysis identified distinctive craniofacial patterns differentiating patients from controls, mainly involving facial asymmetry, increased forehead height, nasal prominence, increased lower lip thickness and reduced chin prominence. The literature review confirmed shared chromatinopathy-related features, including developmental delay, intellectual disability, craniofacial dysmorphism, skeletal anomalies and behavioral disturbances, as well as under-recognized findings such as facial asymmetry, low anterior hairline, hypotonia and hearing impairment. The present study broadens the phenotypic and genotypic landscape of KBGS, providing quantitative craniofacial characterization, and refines genotype-phenotype associations to support improved diagnostic accuracy. - Source: PubMed
Publication date: 2026/08/10
Bonilla-Navarrete SebastiánNastasi-Catanese Jose AntonioPrieto Luis EduardoAndreu-Montoriol MireiaCarvajal-Del-Castillo Laura ValentinaMartínez-Abadías NeusPachajoa Harry - To characterize prenatal sonographic features, genomic findings from chromosomal microarray analysis (CMA) and whole-exome sequencing (WES), pregnancy outcomes, and postnatal manifestations in KBG syndrome and to provide evidence for prenatal diagnosis and genetic counseling in at-risk pregnancies. - Source: PubMed
Publication date: 2026/08/22
Yang XiDing HongkeHu RongLiu LingHuang WeiweiLu Jian - KBG syndrome is a rare neurodevelopmental disorder caused by changes in the ANKRD11 gene (ankyrin repeat domain-containing protein 11). It is typically inherited in an autosomal dominant pattern. This syndrome is characterized by a distinct constellation of clinical findings, including short stature, distinctive craniofacial manifestations, skeletal abnormalities, and abnormal patterns of hair growth. One of the most important features for diagnosing KBG syndrome is the large size of the upper central incisors, which often facilitates the diagnosis between the ages of seven and eight years after the emergence of the permanent teeth. Other common comorbidities include intellectual impairment, developmental delays (especially in speech), behavioral and emotional problems, seizure disorder, and hearing loss. While the diagnosis is often based on clinical features, whole exome sequencing (WES) remains the gold standard for identification of the underlying genetic abnormality in the ANKRD11 gene. This report presents the clinical findings of a young Bahraini male diagnosed with KBG syndrome to highlight the importance of clinical awareness. By sharing his case, we aim to help healthcare providers to recognize these signs and help these children to get the support they deserve as soon as possible. - Source: PubMed
Publication date: 2026/07/13
Ibrahim Hanin SJadah Raafat H - KBG syndrome (KBGS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in ANKRD11. It is characterized by developmental delay, intellectual disability, behavioral difficulties, macrodontia, craniofacial dysmorphism, short stature, and skeletal anomalies. - Source: PubMed
Publication date: 2026/07/27
Labani MaiRahbeeni Zuhair