Immunogen
Purified recombinant fragment of TBX5 expressed in E. Coli.
Specificity
TBX5 Monoclonal Antibody detects endogenous levels of TBX5 protein.
Formulation
Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
Purification process (Immunogen)
Affinity purification
Background
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008],
Function
disease:Defects in TBX5 are the cause of Holt-Oram syndrome (HOS) [MIM:142900]. HOS is a developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.,function:Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation.,similarity:Contains 1 T-box DNA-binding domain.,
Protein name
T-box transcription factor TBX5
Other name
TBX5; T-box transcription factor TBX5; T-box protein 5
Human protein sequence Database
Q99593
Mouse protein sequence database
P70326
Rat protein sequence database
Cellular localization
Nucleus . Cytoplasm . Shuttles between the cytoplasm and the nucleus. Acetylation at Lys-339 promotes nuclear retention. .
Tissue expression
Lung,Spleen,
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