Search Thermo Fisher Scientific
Sequence of this protein is as follows: MFPSPALTPT PFSVKDILNL EQQQRSLAAA GELSARLEAT LAPSSCMLAA FKPEAYAGPE AAAPGLPELR AELGRAPSPA KCASAFPAAP AFYPRAYSDP DPAKDPRAEK KELCALQKAV ELEKTEADNA *
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.
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; cardiac-specific homeobox 1; FLJ52202; FLJ97166; FLJ97195; FLJ97197; FLJ99536; Homeobox protein CSX; Homeobox protein NK-2 homolog E; homeobox protein NKX 2-5; Homeobox protein Nkx-2.5; NK2 transcription factor related locus 5; NK2 transcription factor related, locus 5; NKX 2-5; Nkx-25; tinman paralog
基因别名: CHNG5; CSX; CSX1; HLHS2; NKX2-5; NKX2.5; NKX2E; NKX4-1; VSD3
UniProt ID: (Human) P52952
Entrez Gene ID: (Human) 1482