Ask about this productRelated genes to: UNC45A Blocking Peptide
- Gene:
- UNC45A NIH gene
- Name:
- unc-45 myosin chaperone A
- Previous symbol:
- -
- Synonyms:
- SMAP-1, GC-UNC45
- Chromosome:
- 15q26.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-11-17
- Date modifiied:
- 2015-06-19
Related products to: UNC45A Blocking Peptide
Related articles to: UNC45A Blocking Peptide
- To analyze the phenotype and genotype of a neonate with Osteo-oto-hepato-enteric syndrome (O2HE) and review the literature. - Source: PubMed
Wang DandanLi QianqianGuo HongxiangChen YongningHao QingfeiXu YanleiCheng Xiuyong - - Source: PubMed
Publication date: 2025/12/11
Imhann FlorisZhou ZheMalcolm Chantal F S - Mutations in the gene, which encodes the heavy chain of the actin-based molecular motor non-muscle myosin II-A (NM2-A), cause a spectrum of rare blood disorders collectively termed -related diseases (-RD). Previous data indicate that mutations in the motor domain result in more severe phenotypes than those in the dimerization/filamentation domain. Here, we show that N93K mutation, previously described as motor-impairing, has only a minor effect on myosin motor function in vitro, but it significantly enhances NM2-A filament stability and interaction with the chaperone UNC45a. When expressed in stress fiber-competent cells, e.g., COS7 or U2OS, and stress fiber-incompetent cells, e.g., MEG-01, NM2-A N93K formed amorphous aggregates that colocalized with wild-type NM2-A, NM2-B and UNC45a, but not F-actin, tropomyosin-4 or phosphoSer19, active, RLC. Another motor mutant, NM2-A R705H, caused milder defects in filament stability, adhesion maturation and aggregation in both types of cells. Conversely, the tail domain mutant NM2-A E1841K enhanced filament stability in COS7 cells without forming aggregates, while it promoted the formation of small, elongated aggregates in MEG-01 cells that did not co-localize with wild type NM2-A. These data indicate that the molecular defect caused by NM2A-N93K affects the distribution and function of the wild type allele, whereas NM2-A E1841K aggregates do not affect the wild type allele, which could constitute the molecular basis of the differences in severity in mutant allele carriers. - Source: PubMed
Publication date: 2026/02/28
Llorente-González ClaraMustafina KamilaAsensio-Juárez GloriaGarrido-Casado MarinaTalayero Vanessa CPérez-Díaz RafaelRamos-Solano HugoSellers James RChinthalapudi KrishnaWiseman Paul WHeissler Sarah MVicente-Manzanares Miguel - - Source: PubMed
Publication date: 2025/10/17
Foster April RoseG NatashaHarris RebeccaZilbauer MatthiasRoss Alexander - To report the clinical manifestations, treatment, and genetic diagnosis of a patient with osteo-oto-hepato-enteric (O2HE) syndrome. - Source: PubMed
Sun ZhengdaSong QijunZhang ZiyueLiu ShaolingYu RuihuaChen YaoLiu HaiyanWang Lijun