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T-box transcription factor TBX4; T-box protein 4 (TBX4)
Function:
- role in the transcriptional regulation of genes required for mesoderm differentiation
- probably plays a role in limb pattern formation
Structure:
- contains 1 T-box DNA-binding domain
Compartment: nucleus (putative)
Pathology:
- defects in TBX4 are the cause of small patella syndrome
General
T-box (TBX) protein
Properties
SIZE: entity length = 545 aa
MW = 60 kD
COMPARTMENT: cell nucleus
MOTIF: T-box domain
SITE: 71-251
Database Correlations
OMIM correlations
MORBIDMAP 601719
UniProt P57082
Pfam PF00907
Entrez Gene 9496
Kegg hsa:9496
References
- UniProt :accession P57082
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TBX4