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Rabbit Anti-TBX3/FITC Conjugated antibody
background:
Tbx3 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. Tbx3 is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined.
Function:
Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation.
Subcellular Location:
Nucleus (Potential).
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS) [MIM:181450]. UMS is characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.
Similarity:
Contains 1 T-box DNA-binding domain.
Database links:
Entrez Gene: 6926 Human
Entrez Gene: 21386 Mouse
Entrez Gene: 353305 Rat
Omim: 601621 Human
SwissProt: O15119 Human
SwissProt: P70324 Mouse
SwissProt: Q7TST9 Rat
Unigene: 129895 Human
Unigene: 219139 Mouse
Unigene: 162144 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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