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Immunogen sequence: EVHASTPGAF LLGNPAVTSP PSVLSTQAPT SAGVEVLGEP SLTSIAVSTW TAVASHPFAG WGGPGAGGHH SPSSLDG
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure.
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: T-box factor, pituitary; T-box protein 19; T-box transcription factor TBX19; TBS 19
基因别名: dJ747L4.1; TBS19; TBX19; TPIT
UniProt ID: (Human) O60806
Entrez Gene ID: (Human) 9095