NP_001317606.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
T-box transcription factor TBX15 isoform 1
NCBI Official Synonym Full Names
T-box 15
NCBI Official Synonym Symbols
NCBI Protein Information
T-box transcription factor TBX15
UniProt Protein Name
T-box transcription factor TBX15
UniProt Synonym Protein Names
T-box transcription factor TBX14; T-box protein 14
UniProt Synonym Gene Names
NCBI Summary for TBX15
This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
UniProt Comments for TBX15
TBX15: Probable transcriptional regulator involved in the development of the skeleton of the limb, vertebral column and head. Acts by controlling the number of mesenchymal precursor cells and chondrocytes. Defects in TBX15 are the cause of Cousin syndrome (COUSS); also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature. Cousin syndrome is defined as pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphy (frontal bossing, hypertelorism, narrow palpebral fissures, deep set globes, strabismus, low-set posteriory rotated and unusually formed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, and a low hairline). Intelligence may vary from normal to moderately impaired. Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synosthosis, dislocation of the femoral heads, and moderate brachydactyly. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding
Chromosomal Location of Human Ortholog: 1p12
Molecular Function: protein binding
Disease: Cousin Syndrome
Research Articles on TBX15
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Diseases associated with TBX15 recombinant protein
Organs/Tissues associated with TBX15 recombinant protein
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