T-box transcription factor TBX15 Recombinant Protein | TBX15 recombinant protein

Recombinant Human T-box transcription factor TBX15

Cat. Num. AAA9421296

• Gene Names: TBX15; TBX14
• Reactivity: Human
• Purity: Greater than 90% as determined by SDS-PAGE.
• Synonyms: T-box transcription factor TBX15; Recombinant Human T-box transcription factor TBX15; T-box transcription factor TBX14; T-box protein 14; TBX15 recombinant protein

• Host: E Coli
• Reactivity: Human
• Purity/Purification: Greater than 90% as determined by SDS-PAGE.
• Form/Format: 20mM Tris-HCl based buffer, pH8.0
• Sequence Positions: Isoform 2, 1-494aa

• Tag Info: His-SUMO-tag
• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C. Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.

Related Product Information for TBX15 recombinant protein

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.

NCBI and Uniprot Product Information

• NCBI GI #: 1061213996
• NCBI GeneID: 6913
• NCBI Accession #: NP_001317606.1
• NCBI GenBank Nucleotide #: NM_001330677.1
• UniProt Accession #: Q96SF7; Q08E76; Q5JT54; Q5T9S7
• Molecular Weight: 70.4kD
• NCBI Official Full Name: T-box transcription factor TBX15 isoform 1
• NCBI Official Synonym Full Names: T-box 15
• NCBI Official Symbol: TBX15
• NCBI Official Synonym Symbols: TBX14
• NCBI Protein Information: T-box transcription factor TBX15
• UniProt Protein Name: T-box transcription factor TBX15
• Protein Family: T-box transcription factor
• UniProt Gene Name: TBX15
• UniProt Synonym Gene Names: TBX14; T-box protein 15; T-box protein 14

NCBI Description

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 Description

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