Symbol: Name: ID: |
TBX1 T-box 1 GFS:1442 |
Gene name: | TBX1 |
Chromosome: | 22q11.21 |
Previous Symbols: | |
Previous Names: | |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98493 | Rat Genome Database ID: | RGD:1307734 |
HGNC ID: | HGNC:11592 | RefSeq IDs: | NM_005992 |
Entrez Gene ID: | 6899 | Ensembl Gene ID: | ENSG00000184058 |
VEGA IDs: | OTTHUMG00000150421 | UniProt ID: | O43435 |
UCSC ID: | uc002zqa.1 | OMIM ID: | 602054 |
Pubmed: | PMID9268629 | ||
CCDS IDs: | CCDSCCDS13765.1 CCDS CCDS13766.1 CCDS CCDS13767.1 |
The TBX1 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].
Function: Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).
Products for TBX1 gene
Catalog | Product Name | Application | Company |
GFS:E01442 | T-box 1; ELISA kit | ELISA | n/a |
GFS:A01442 | T-box 1; Anti | ANTIBODIES | n/a |
GFS:P01442 | T-box 1; Protien | Protien | n/a |