Gene Symbol | NKX2-5 |
Entrez Gene ID | 1482 |
Full Name | NK2 homeobox 5 |
Synonyms | CHNG5,CSX,CSX1,HLHS2,NKX2.5,NKX2E,NKX4-1,VSD3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Atrial septal defect 7, with or without AV conduction defects, 108900 (3); Tetralogy of Fallot, 187500 (3); Hypothyroidism, congenital nongoitrous, 5, 225250 (3); Ventricular septal defect 3, 614432 (3); Hypoplastic left heart syndrome 2, 614435 (3); Conotruncal heart malformations, variable, 217095 (3) |