| Protein Name | NK2 homeobox 5 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1482 |
| Gene Symbol | NKX2-5 |
| UniProt | P52952 (NKX25_HUMAN), A0A0S2Z383 (A0A0S2Z383_HUMAN), E5RH49 (E5RH49_HUMAN), A0A0S2Z3K2 (A0A0S2Z3K2_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
171
Total Number of Articles : 172 |
Description |
NK2 homeobox 5 |
| Gene 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] |
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