RBM28 Antibody (PACO11757)
- SKU:
- PACO11757
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Applications:
- ELISA
- Applications:
- WB
- Antibody Type:
- Polyclonal Antibody
- Conjugation:
- Unconjugated
Description
| Antibody Name: | RBM28 Antibody (PACO11757) |
| Antibody SKU: | PACO11757 |
| Size: | 50ul |
| Host Species: | Rabbit |
| Tested Applications: | ELISA, WB |
| Recommended Dilutions: | |
| Species Reactivity: | Human, Mouse, Rat |
| Immunogen: | Human RBM28 |
| Form: | Liquid |
| Storage Buffer: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
| Purification Method: | Antigen Affinity purified |
| Clonality: | Polyclonal |
| Isotype: | IgG |
| Conjugate: | Non-conjugated |
| Synonyms: | RNA binding motif protein 28;RBM28;FLJ10377 ; |
| UniProt Protein Function: | RBM28: Nucleolar component of the spliceosomal ribonucleoprotein complexes. Defects in RBM28 are the cause of alopecia neurologic defects and endocrinopathy syndrome (ANES). Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. |
| UniProt Protein Details: | Protein type:RNA splicing; RNA-binding; Nucleolus Chromosomal Location of Human Ortholog: 7q32.1 Disease: Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
| NCBI Summary: | The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
| UniProt Code: | Q9NW13 |
| NCBI GenInfo Identifier: | 55976611 |
| NCBI Gene ID: | 55131 |
| NCBI Accession: | Q9NW13.3 |
| UniProt Secondary Accession: | Q9NW13,Q53H65, Q96CV3, A4D100, B4DU52, E9PDD9, |
| UniProt Related Accession: | Q9NW13 |
| Molecular Weight: | 69,923 Da |
| NCBI Full Name: | RNA-binding protein 28 |
| NCBI Synonym Full Names: | RNA binding motif protein 28 |
| NCBI Official Symbol: | RBM28 |
| NCBI Official Synonym Symbols: | ANES |
| NCBI Protein Information: | RNA-binding protein 28 |
| UniProt Protein Name: | RNA-binding protein 28 |
| UniProt Synonym Protein Names: | RNA-binding motif protein 28 |
| Protein Family: | RNA-binding protein |
| UniProt Gene Name: | RBM28 |
| UniProt Entry Name: | RBM28_HUMAN |
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