Ask about this productRelated genes to: Kidins220 antibody
- Gene:
- KIDINS220 NIH gene
- Name:
- kinase D interacting substrate 220
- Previous symbol:
- -
- Synonyms:
- ARMS
- Chromosome:
- 2p25.1
- Locus Type:
- gene with protein product
- Date approved:
- 2008-11-25
- Date modifiied:
- 2016-11-23
Related products to: Kidins220 antibody
Related articles to: Kidins220 antibody
- Pathogenic variants in the gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus. We identified two novel intronic variants in intron 29 of gene (NM_020738.4), c.4054-2A > G and c.4054-7T > C, in a female patient presenting with motor dysfunction and developmental delay. Brain MRI revealed delayed myelination. To investigate whether these intronic variants cause aberrant splicing and affect protein expression, we sequenced cDNA from peripheral blood and concurrently performed a minigene splicing assay. The results indicated that KIDINS220 was not expressed in PBMCs. However, the minigene assay demonstrated that the c.4054-2A > G variant causes an in-frame 336-bp deletion in exon 30, resulting in a 112-amino acid deletion in the C-terminal region of KIDINS220 (p.(Ser1352_Ser1463del)). In contrast, the c.4054-7T > C variant did not disrupt normal splicing. Based on the patient's clinical features and functional validation of the genetic variants, our paediatricians established a diagnosis of mild motor dysfunction and developmental delay. Our findings broaden the spectrum of pathogenic variants underlying -related disorders and provide essential information for genetic counselling. - Source: PubMed
Publication date: 2026/01/11
Bai LuHei YuTian RujinZhang HaozhengXin HongmeiYang YananGe LiliLv YuqiangMu XiaoGai ZhongtaoLiu GuohuaGao LifenZhang Kaihui - Mutations in are known to cause hereditary spastic paraplegia (HSP) and SINO syndrome. However, the phenotypic and genotypic spectrum of -related disorders remains incompletely understood. Herein, we describe the clinical, electrophysiological, histopathological, and genetic features of a novel KIDINS220 sterile alpha motif (SAM) -like domain mutation identified in a Chinese family with HSP accompanied by severe peripheral neuropathy (PN). - Source: PubMed
Publication date: 2025/10/14
Chu XujunXu JinZheng YileiLiu XiaoyuYuan YunWu Rui - The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions. Additionally, the number of new variants in known mutations continues to increase. In this paper, we aim to report our experience with genetically confirmed HSPs. We retrospectively evaluated 10 consecutive children with genetically confirmed HSPs. In this study, we identified six novel mutations, including spastic paraplegia 11 (), glucosylceramidase beta 2 (, chromosome 19 open reading frame 12 (), 1 in each of the Cytochrome P450 family 7 subfamily B member 1 () genes, and two different mutations in the intropomyosin-receptor kinase fused gene () gene. We also identified different clinical phenotypes associated with known mutations. Heterozygous mutations with and mutation-related HSP are reported for the first time, expanding the known inheritance patterns. We report a novel homozygous chromosome 19 open reading frame 12 () mutation resulting in iron accumulation in the brain, broadening the genetic variants and clinical findings. We determine the first Turkish patients with carnitine palmitoyltransferase IC () and gene mutation-related pure HSP. A pure form of HSP with two novel TFG gene mutations is also identified for the first time. We report the first Turkish patient with kinase D-interacting substrate of 220 kDa () gene, broadening the clinical spectrum of variant-related disorders to encompass certain HSPs. Moreover, a novel variant in the oxysterol7-hydroxylase () gene is reported, expanding the genetic variants and clinical findings relating to . - Source: PubMed
Publication date: 2025/10/04
Besen SeydaÖzkale YaseminÖzkale MuratBozdoğan Sevcan TuğAlkan ÖzlemCeylaner SerdarErol İlknur - XPR1 is emerging as the only known inorganic phosphate (Pi) exporter in humans, critical for Pi homeostasis, with its activity stimulated by inositol pyrophosphate InsP8 and regulated by neuronal scaffold protein KIDINS220. Our structural studies reveal that InsP8 specifically activates XPR1 in a stepwise manner, involving profound SYG1/PHO/XPR1 (SPX) domain movements. Each XPR1 subunit functions with four gating states, in which Pi permeates a constriction site via a "knock-kiss-kick" process. By contrast, KIDINS220 delicately stabilizes XPR1 in a closed conformation through multiple mechanisms, one of which involves trapping the XPR1 α1 helix-critical for InsP8 binding-within an interaction hub. InsP8 serves as a key to release KIDINS220's restraint, reinforcing a "key-to-locks" mechanism to safeguard the stepwise activation. Additionally, our study provides direct structural insights into XPR1-associated neuronal disorders and highlights the evolutionary conservation and divergence among XPR1 orthologs, offering a comprehensive understanding of Pi homeostasis across species. - Source: PubMed
Publication date: 2025/08/25
Wang XiaojieBai ZhongjianWallis CiaraWang HuanchenHan YaoyaoJin RuitaoLei MingguangYang TianGu ChunfangJessen HenningShears StephenSun YadongCorry BenZhang Yixiao - Patients with multidrug-resistant tuberculosis (MDR-TB) who are resistant to at least both rifampicin and isoniazid, lack effective treatment options in clinic. The gold standard for the diagnosis of MDR-TB is drug sensitivity test, which is time-consuming and has a relatively low positive detection rate. Screening early diagnostic biomarker for MDR-TB is urgent need in clinical practice. - Source: PubMed
Publication date: 2025/08/25
Zhang YangZhang LinyuShi LiyingWei LiliangGan LinHu YutingHuang HuaiXie KepingJiang TingtingLi Ji-Cheng