1-832-868-1888
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Catalog Number: |
48215 |
| other_names: | 116 kDa antibody 116 kDa U5 small nuclear ribonucleoprotein component antibody EFTUD2 antibody Elongation factor Tu GTP binding domain containing 2 antibody Elongation factor Tu GTP-binding domain-containing protein 2 antibody hSN |
Amount: |
100μg |
| calculated_mw: | 116 kDa |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#:O08810 |
Form of Antibody: |
1*TBS (pH7.4), 1%BSA, 40%Glycerol. Preservative: 0.05% Sodium Azide. |
Storage/Stability: |
|
Immunogen: |
peptide |
Purification: |
Peptide affinity purified |
Specificity/Sensitivity: |
|
Applications: |
WB, ICC, IHC |
Background: |
116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene. Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly, a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies. |
References: |
|
appl_detail: |
WB: 1:1,000 |
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