其他名称： NKX2-5; CSX; NKX2.5; NKX2E; Homeobox protein Nkx-2.5; Cardiac-specific homeobox; Homeobox protein CSX; Homeobox protein NK-2 homolog E
功能： disease:Defects in NKX2-5 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.,disease:Defects in NKX2-5 are the cause of atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]. ASD-AVCD is a congenital heart malformation characterized by atrioventricular conduction defects and incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.,disease:Defects in NKX2-5 are the cause of congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]. CHNG5 is a non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.,function:Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4.,online information:Congenital heart disease website,similarity:Belongs to the NK-2 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with FBLIM1.,tissue specificity:Expressed only in the heart.,
其他名称： NKX2-5; CSX; NKX2.5; NKX2E; Homeobox protein Nkx-2.5; Cardiac-specific homeobox; Homeobox protein CSX; Homeobox protein NK-2 homolog E
功能： disease:Defects in NKX2-5 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.,disease:Defects in NKX2-5 are the cause of atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]. ASD-AVCD is a congenital heart malformation characterized by atrioventricular conduction defects and incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.,disease:Defects in NKX2-5 are the cause of congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]. CHNG5 is a non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.,function:Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4.,online information:Congenital heart disease website,similarity:Belongs to the NK-2 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with FBLIM1.,tissue specificity:Expressed only in the heart.,
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