Product Datasheet
Eftud2 Antibody
Catalog Number: 48215
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:O08810
- Form of Antibody:
- 1*TBS (pH7.4), 1%BSA, 40%Glycerol. Preservative: 0.05% Sodium Azide.
- 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
- Purification:
- Peptide affinity purified
- 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.
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