Ask about this productRelated genes to: FKTN Blocking Peptide
- Gene:
- FKTN NIH gene
- Name:
- fukutin
- Previous symbol:
- FCMD
- Synonyms:
- LGMD2M
- Chromosome:
- 9q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 1993-12-01
- Date modifiied:
- 2019-04-23
Related products to: FKTN Blocking Peptide
Related articles to: FKTN Blocking Peptide
- Intracranial aneurysms (IAs) represent a significant and potentially life-threatening category of disease, and there is currently a lack of effective treatment options aimed at preventing the progression of the disease. Accordingly, this study is dedicated to exploring and identifying effective drug targets that can help in the prevention of both the formation and rupture of IAs, along with a detailed examination of the underlying potential mechanisms involved in these processes. The data related to IAs for this research was obtained from the ISGC Biobank and UK Biobank. Then, we investigated the possible biological functions and unintended consequences of targeting the specific genes that were highlighted in IAs by using mediation analysis, virtual knockout experiments, and PW-MR studies. A total of 5 unique potential drug targets for IAs (FKTN, MAP3K1, PSMA4, SLC22A4, ADAM17), 4 unique potential drug targets for SAH (PSMA4, ADAM17, GPR160, SLC22A4), and 2 unique potential drug targets for UIA (SLC22A4, PRCP) were identified across brain or blood samples. Among the various candidates identified, SLC22A4 has emerged as a promising potential drug target, showing significant expression levels in both blood and brain tissues. Additionally, phenome-wide MR of SLC22A4 across 32 selected phenotypes did not identify statistically significant adverse associations after FDR correction. Virtual knockout (KO) experiments on SLC22A4 revealed that SLC22A4 KO disrupted 81 genes, all of which are involved in IAs-related pathways. Besides, we recognized BRD-K85337334 as potential candidates for targeting SLC22A4. This research indicates that an increase in SLC22A4 gene expression within the blood or brain is directly linked to a heightened risk of IAs rupture, which will aid in prioritizing the development of drugs for IAs. - Source: PubMed
Wan XichenWan ZhiYingPeng HaoyangZhang ZeyuHuang YiWang MaoqiWang PengHu WenhaoXiong WeiDing HanXiong YeWu Xiao - Fukutinopathy is a rare autosomal recessive dystroglycanopathy caused by pathogenic FKTN variants. Cardiac-predominant presentations without overt neuromuscular manifestations are uncommon. - Source: PubMed
Publication date: 2026/09/02
Imayavaramban BalajiKumar PramodChowdhury Ritabrata RoyHarish PydiLone Muzamil YousufNagesh SharathSreedharan Sapna EratNamboodiri Narayanan - Rhabdomyolysis is a potentially life-threatening condition that can result from genetic causes. Despite that, little is known about the genetic underpinnings behind monogenic rhabdomyolysis in Brazil. - Source: PubMed
Publication date: 2026/08/13
Martins Aldrin PedrozaMartinez Alberto Rolim MuroNucci AnamarliFrança Júnior Marcondes Cavalcante - Pathogenic fukutin (FKTN) variants cause different α-dystroglycanopathies, ranging from Fukuyama congenital muscular dystrophy to Walker-Warburg syndrome. We report a female neonate with compound heterozygous FKTN variants presenting with Walker-Warburg spectrum features and severe cochlear hypoplasia with preserved basal turn. The proband presented with marked hypotonia and early respiratory compromise at birth. Trio sequencing revealed compound heterozygous FKTN variants, including a common 3-kb founder insertion (NM_006731.2:c.4392_4393ins) and an early nonsense variant (NM_001079802.2:c.139C>T; p.Arg47Ter). Brain magnetic resonance imaging demonstrated extensive cobblestone lissencephaly and temporal bone imaging revealed bilateral severe cochlear hypoplasia with preserved basal turn and sensorineural hearing loss. Typical Walker-Warburg features such as hydrocephalus or a clear Z-shaped brainstem configuration were absent. This genotype, predicted to markedly reduce FKTN activity, likely caused severe α-dystroglycan dysfunction. The coexistence of cobblestone lissencephaly and cochlear hypoplasia suggests that profound α-dystroglycan impairment can affect both early organogenesis and later neuronal migration through altered extracellular matrix-dependent developmental signaling pathways. Overall, this case expands the phenotypic spectrum of FKTN-related dystroglycanopathy and highlights inner ear malformations as an under-recognized feature of severe FKTN deficiency. - Source: PubMed
Publication date: 2026/07/09
Koyano YukiMiura-Fuchino RenaKono TatsuoHoshino YusukeIwabuchi EmiKajikawa Daigo - Muscle-Eye-Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy. This systematic review aims to explore all current literature data regarding clinical and electroencephalographic features of MEB cases with epilepsy. - Source: PubMed
Publication date: 2026/03/07
Kalampokini StefaniaPityrigkas EvripidisLiouta EleniPepe GeorgiaPoulidou VasilikiSpilioti MarthaKimiskidis Vasilios K