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.
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Protein Aliases: Cardiac specific homeobox; Cardiac-specific homeobox; cardiac-specific homeobox 1; CHNG5; CSX; CSX1; Homeobox protein CSX; Homeobox protein NK-2 homolog E; homeobox protein NKX 2-5; Homeobox protein Nkx 2.5; Homeobox protein Nkx-2.5; NK2 transcription factor related locus 5; NK2 transcription factor related, locus 5; NKX 2-5; NKX2 5; NKX2-5; NKX2.5; NKX2E; NKX4 1; tinman paralog
Gene Aliases: CHNG5; CSX; CSX1; HLHS2; NKX2-5; NKX2.5; NKX2E; NKX4-1; VSD3
UniProt ID: (Human) P52952
Entrez Gene ID: (Human) 1482