T-box transcription factor TBX1 (TBX1) Recombinant Protein | TBX1 recombinant protein

Recombinant Human T-box transcription factor TBX1 (TBX1)

Cat. Num. AAA1157577

• Gene Names: TBX1; DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: T-box transcription factor TBX1 (TBX1); Recombinant Human T-box transcription factor TBX1 (TBX1); TBX1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-398, Full length protein
• Sequence: MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC
• Sequence Length: 398

• Species: Human
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for TBX1 recombinant protein

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 product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)
velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS
VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene.

NCBI and Uniprot Product Information

• NCBI GI #: 5174711
• NCBI GeneID: 6899
• NCBI Accession #: NP_005983.1
• NCBI GenBank Nucleotide #: NM_005992.1
• UniProt Accession #: O43435; O43436; Q96RJ2; C6G493; C6G494
• Molecular Weight: 52,666 Da
• NCBI Official Full Name: T-box transcription factor TBX1 isoform B
• NCBI Official Synonym Full Names: T-box 1
• NCBI Official Symbol: TBX1
• NCBI Official Synonym Symbols: DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22
• NCBI Protein Information: T-box transcription factor TBX1
• UniProt Protein Name: T-box transcription factor TBX1
• Protein Family: T-box transcription factor
• UniProt Gene Name: TBX1
• UniProt Synonym Gene Names: T-box protein 1

NCBI Description

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 product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Uniprot Description

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries ().