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中文名称： NKX2-5抗原（重组蛋白）
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Full name: |
NK2 homeobox 5 |
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Synonyms: |
CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1 |
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Swissprot: |
P52952 |
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Gene Accession: |
BC025711 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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. |
