Ask about this productRelated genes to: KIF21A antibody
- Gene:
- KIF21A NIH gene
- Name:
- kinesin family member 21A
- Previous symbol:
- FEOM1
- Synonyms:
- FLJ20052
- Chromosome:
- 12q12
- Locus Type:
- gene with protein product
- Date approved:
- 2002-10-08
- Date modifiied:
- 2016-11-10
Related products to: KIF21A antibody
Related articles to: KIF21A antibody
- Congenital cranial dysinnervation disorders (CCDDs) are a group of rare, nonprogressive conditions characterized by abnormal development of the cranial motor nerves and variable ocular motility deficits, ptosis, incomitant strabismus, and facial palsy. Advances in genetics and neuroimaging have revealed that these disorders result from defects in neuronal differentiation or axon guidance of the cranial motor neurons. Duane retraction syndrome, the most common CCDD, results from the absence of the abducens nerve and innervation of the lateral rectus by oculomotor nerve axons; causative genes include CHN1, MAFB, HOXA1, SALL4, and EBF3, although most cases do not have a genetic diagnosis. Congenital fibrosis of the extraocular muscles (CFEOM), results from variants in KIF21A, PHOX2A, TUBB3, or other tubulin genes, and affects the oculomotor and trochlear nerves. Horizontal gaze palsy with progressive scoliosis (HGPPS), caused by ROBO3 loss of function, arises from failure of axonal midline crossing in the brainstem. Moebius syndrome, defined by abducens and facial nerve palsies, has no identified genetic cause and may result from non-Mendelian causes. Additional CCDDs with atypical or syndromic presentations are linked to COL25A1, ECEL1, and ACKR3, although many do not have a genetic explanation. The expanding list of CCDD-associated genes highlights shared developmental pathways, including neuronal differentiation, axon guidance, and microtubule dynamics. Improved genetic diagnosis informs prognosis and multidisciplinary management. This review synthesizes current understanding of CCDDs, emphasizing the shift from phenotypic classification to molecular subtyping, and underscores the importance of ongoing research to resolve genetically unsolved cases and refine diagnostic and therapeutic strategies. - Source: PubMed
Publication date: 2026/03/23
Aufderheide KathleenWhitman Mary C - ALK and ROS1 fusions are key drivers of infant-type hemispheric gliomas (IHG). With diverse gene partners, the impact of ALK and ROS1 oncoprotein heterogeneity on glioma biology remains unknown. We developed an integrative phospho-proteomic and transcriptomic approach to discover biological functions regulated by five IHG-associated fusions: CCDC88A::ALK, PPP1CB::ALK, GOPC::ROS1, CLIP1::ROS1, and KIF21A::ROS1. Here, we report fusion-specific oncogenic functions conferred by the 5' gene partner, including increased cell motility driven by microtubule-interacting fusions CCDC88A::ALK and CLIP1::ROS1. All studied fusions converge on STAT3 activation. Using affinity purification mass spectrometry, we identified SHP2 in direct interaction with all three ROS1 oncoproteins but with none of the ALK oncoproteins, which in turn interact with SHC1/SHC3. ROS1 fusions phosphorylate SHP2 to a greater extent than ALK fusions, and analyses of downstream pathways suggest MAPK-independent, non-canonical SHP2-driven functions. Our findings reveal both common and fusion-specific dependencies, offering opportunities to optimize therapeutic strategies for pediatric gliomas. - Source: PubMed
Publication date: 2026/03/05
Postlmayr AndreasSanchez Bergman AstridTorrejon Diaz JacobCiraulo BernardYan ShenHofmann NinaCarbajal SamantaDobler RosalieMachaalani CharbelSchönholzer Marc TPriego Gonzalez LauraDe Micheli Andrea JBerenjeno-Correa ErnestoBaroncini LucaGrotzer Michael ATabori UriHawkins CynthiaAyrault OlivierZuckermann MarcBaumgartner MartinGuerreiro Stücklin Ana S - Heterozygous missense variants in the gene are best known to cause congenital fibrosis of the extraocular muscles. A recent report by Borja et al., 2025 suggested that the gene may also be associated with syndromic phenotype, including peripheral neuropathy, brain malformations, and strabismus. We report the second case of early-onset distal motor neuropathy associated with the gene. The proband was a 6-year-old female patient who had normal brain MRI, while neurophysiological examination and lower limb muscle MRI both suggested peripheral neuropathy. Quad whole-genome sequencing of the proband, her healthy sibling, and parents identified a missense variant, c.1991T>C, p. (Leu664Pro), in the gene and two compound-heterozygous missense variants, c.274C>T, p. (Pro92Ser) and c.512A>G, p. (Asn171Ser), in the gene. Since the clinical features were not fully consistent with the known phenotypes associated with or -related disorders, initial genetic analysis prioritized . However, functional studies, including exploratory Western blot analysis and high-resolution respirometry failed to support the pathogenicity of the identified variants. Following the publication of a similar -associated case, the c.1991T>C, p. (Leu664Pro) variant was re-evaluated and re-classified as likely pathogenic. Our case supports expansion of the -related phenotype to include distal motor neuropathy without brain malformations, in addition to multiple reports of other -associated syndromic phenotypes. This finding suggests that the gene should be considered in the differential diagnosis for patients presenting with childhood-onset distal motor neuropathies. - Source: PubMed
Publication date: 2025/11/06
Subbotin DmitriiTatarskiy EugeneKuchina AnnaCherevatova TatianaKrylova TatianaRyzhkova OksanaSkoblov MikhailMurtazina Aysylu - To compare the clinical and neuroimaging phenotypes in Chinese patients with congenital fibrosis of extraocular muscles (CFEOM) harboring KIF21A versus TUBB3 variants. - Source: PubMed
Publication date: 2025/08/23
Wang DanJia Hong-YanLiang YiMa QianChang Qing-LinZhang Ran-RanJiao Yong-Hong - Type 1 diabetes mellitus (T1DM), as an autoimmune disease, can increase susceptibility to clear cell renal cell carcinoma (ccRCC) due to its proinflammatory effects. ccRCC is characterized by its subtle onset and unfavorable prognosis. Thus, the aim of this study was to highlight prevention and early detection opportunities in high-risk populations by identifying common biomarkers for T1DM and ccRCC. - Source: PubMed
Publication date: 2025/03/03
Li YiZeng RuiHuang YuhuaZhuo YuminHuang Jun