2024年12月25日 · GDF1 (Growth Differentiation Factor 1) is a Protein Coding gene. Diseases associated with GDF1 include Right Atrial Isomerism and Congenital Heart Defects, Multiple Types, 6. Among its related pathways are Nervous system development and …

Growth differentiation factor 1 (GDF1) is a protein that in humans is encoded by the GDF1 gene. [5] GDF1 belongs to the transforming growth factor beta superfamily that has a role in left-right patterning and mesoderm induction during embryonic development. [6] It is found in the brain, spinal cord and peripheral nerves of embryos. [5] [6]

该基因编码 TGF-β (转化生长因子-β) 蛋白质超家族的分泌配体。 该家族的配体结合各种 TGF-β 受体，导致调节基因表达的 SMAD 家族转录因子的募集和激活。 编码的前原蛋白经过蛋白水解处理，生成二硫键连接的同型二聚体的每个亚基。 对啮齿动物的研究表明，这种蛋白质参与早期胚胎发生中左右不对称的建立以及后期胚胎发生中的神经发育。 编码的蛋白质是从也编码神经酰胺合酶 1 的双顺反子 mRNA 翻译而来的。 该基因的突变与几种先天性心血管畸形有关。 [RefSeq 提 …

GDF1 expression is correlated with progression and aggressive behaviors in cervical cancer, suggesting a tumor-promoting role for GDF1 in the progression of this malignancy. Heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries.

2025年1月4日 · Title: Nodal·Gdf1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation. indicate that the expression of growth/differentiation factor 1 (GDF1) is up-regulated in human dilated cardiomyopathy (DCM)hearts and murine hypertrophic hearts.

2024年11月27日 · Clinical resource with information about GDF1, Congenital heart defects, multiple types, 6, Right atrial isomerism, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Lee (1990) identified a mouse embryo cDNA encoding an additional TGF-beta family member that he called GDF1. Using mouse GDF1 cDNA as a probe, Lee (1991) isolated cDNAs encoding human GDF1. The sequence of the predicted 372-amino acid human protein shares 69% identity with that of mouse GDF1.

Growth differentiation factors (GDFs) are a subfamily of proteins belonging to the transforming growth factor beta superfamily that have functions predominantly in development. [1] Several members of this subfamily have been described, and named GDF1 through GDF15.

Here, we show that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF- beta signaling provides a framework for understanding their pathogenesis.

Chromosome 19: 18,979,361-19,006,905 reverse strand. GRCh37:CM000681.1. This gene has 1 transcript (splice variant), 13 paralogues and is associated with 8 phenotypes. Show transcript table.