1. ACVR1 Gene and Signalling | ACVR1基因和信号 The human activin A receptor type I (ACVR1) gene (Ensembl: ENSG00000115170), also known as ALK2, is located in chromosome 2q23-q24 [1] and encodes for the 509 amino acid protein (UniProtKB: Q04771). The ACVR1 protein product was ini...
receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated...
Gene ID: 90 种属 Homo sapiens 基因DNA序列编号: NM_001105.5 基因DNA描述 Homo sapiens activin A receptor type 1 (ACVR1), transcript variant 1, mRNA DNA编码区: atggtagatggagtgatgattcttcctgtgcttatcatgattgctctcccctcccctagt atggaagatgagaagcccaaggtcaaccccaaactctacatgtgtgtgtgtgaaggtctc tcctgcggtaat...
ACVR1基因检测检测的是人的基因序列变化及表征数据库中标号为90的核酸分子上的碱基序列。它的突序及序列异常会引起死亡, 突然, 心脏病。针对基因信息变化所产生的健康问题的靶向药物情况三磷酸腺苷(跨膜受体蛋白丝氨酸/苏氨酸激酶活性);6-[4-(2-哌啶-1-基乙氧基)苯基]-3-吡啶-4-基吡唑并[1,5-a]嘧啶(跨...
ACVR1 and its signalling were initially studied as a type I BMP receptor. Following the discovery of ACVR1 as the gene responsible for FOP, prior knowledge of ACVR1 was combined with new findings regarding its function and regulation in order to advance towards a potential treatment for this...
Gene SummaryActivins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and...
receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated...
ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva. Gene. 2013 Feb 25;515(2):444-6Eresen Yazicioğlu C, Karatosun V, Kizildağ S, Ozsoylu D, Kavukcu S. ACVR1 gene mu- tations in four Turkish patients diagnosed as fibrodysplasia ossificans...
SpeciesGene SymbolGene IDGenBank AccessionTranscript HumanACVR190BC033867NM_001105 About the gene Official SymbolACVR1 Previous SymbolACVRLK2 Official Full Nameactivin A receptor type 1 SynonymsSKR1; ALK2; ACVR1A Location2q24.1 Gene Typeprotein-coding gene ...
receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated...