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nkx2-5

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Official Full Name
NK2 homeobox 5
Background
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Synonyms
NKX2-5; NK2 homeobox 5; CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1; homeobox protein Nkx-2.5; tinman paralog; homeobox protein CSX; cardiac-specific homeobox 1; homeobox protein NK-2 homolog E; NK2 transcription factor related, locus 5; cardiac specific homeo box , CSX, NK2 transcription factor related, locus 5 (Drosophila) , NKX2E; NKX4 1; tinman paralog (Drosophila); FLJ52202; FLJ97166; FLJ97195; FLJ97197; FLJ99536; NK2 transcription factor related, locus 5 (Drosophila); NKX-2.5; CNKX-2.5