Product Information
21229-1-PBS targets USB1 in WB, Indirect ELISA applications and shows reactivity with human samples.
| Tested Reactivity | human |
| Host / Isotype | Rabbit / IgG |
| Class | Polyclonal |
| Type | Antibody |
| Immunogen |
CatNo: Ag15689 Product name: Recombinant human C16orf57 protein Source: e coli.-derived, PKG Tag: GST Domain: 1-265 aa of BC004415 Sequence: MSAAPLVGYSSSGSEDESEDGMRTRPGDGSHRRGQSPLPRQRFPVPDSVLNMFPGTEEGPEDDSTKHGGRVRTFPHERGNWATHVYVPYEAKEEFLDLLDVLLPHAQTYVPRLVRMKVFHLSLSQSVVLRHHWILPFVQALKARMTSFHRFFFTANQVKIYTNQEKTRTFIGLEVTSGHAQFLDLVSEVDRVMEEFNLTTFYQDPSFHLSLAWCVGDARLQLEGQCLQELQAIVDGFEDAEVLLRVHTEQVRCKSGNKFFSMPLK Predict reactive species |
| Full Name | chromosome 16 open reading frame 57 |
| Calculated Molecular Weight | 265 aa, 30 kDa |
| Observed Molecular Weight | 31 kDa |
| GenBank Accession Number | BC004415 |
| Gene Symbol | C16orf57 |
| Gene ID (NCBI) | 79650 |
| RRID | AB_3742023 |
| Conjugate | Unconjugated |
| Form | Liquid |
| Purification Method | Antigen affinity purification |
| UNIPROT ID | Q9BQ65 |
| Storage Buffer | PBS only, pH 7.3. |
| Storage Conditions | Store at -80°C. |
Background Information
USB1 (U6 snRNA biogenesis phosphodiesterase 1) is a key nuclease primarily located within the nucleus and responsible for RNA processing. Its most well-defined function is to catalyze the hydrolysis of the 2',3'-cyclic phosphate at the 3' end of the U6 small nuclear RNA (snRNA), generating an essential 3'-hydroxyl group. This process is crucial for spliceosome assembly and pre-mRNA splicing. Mutations in the USB1 gene directly cause cartilaginous-hair hypoplasia, a rare autosomal recessive genetic disorder. Affected individuals present with short-limbed dwarfism, sparse hair, immunodeficiency, and bone marrow failure, revealing the critical roles of USB1 in skeletal development, cell cycle regulation, and immune system function. Therefore, USB1 is not only a core factor in RNA metabolism but also an important disease-associated protein.
