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Immunogen sequence: AFKPEAYAGP EAAAPGLPEL RAELGRAPSP AKCASAFPAA PAFYPRAYSD PDPAKDPRAE KKELCALQKA VELEKTEADN AERPRARRRR KPRVLFSQAQ V; Positive Samples: Mouse heart, Rat heart; Cellular Location: Nucleus
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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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Cardiac-specific homeobox; Drosophila NK2 transcription factor related, locus 5; FLJ52202; FLJ97166; FLJ97195; FLJ97197; FLJ99536; Homeobox protein CSX; Homeobox protein NK-2 homolog E; Homeobox protein Nkx-2.5; NK2 transcription factor related, locus 5; Nkx-25; rNKx-2.5
基因别名: Csx; Nkx-2.5; Nkx2-5; Nkx2.5; Nkx2e; tinman
UniProt ID: (Rat) O35767, (Mouse) P42582
Entrez Gene ID: (Rat) 114109, (Mouse) 18091