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Eftud2 Antibody

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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