What does ACVR1 gene do?
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The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification).
What chromosome is ACVR1 on?
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).
What is the function of activin?
Activin is produced in the gonads, pituitary gland, placenta, and other organs: In the ovarian follicle, activin increases FSH binding and FSH-induced aromatization. It participates in androgen synthesis enhancing LH action in the ovary and testis. In the male, activin enhances spermatogenesis.
What is the name of the ligand for ACVR1?
Surprisingly, ACVR1-R206H shows acquired responsiveness to novel ligands in cell culture and mouse models; most notably Activin A, a TGFβ superfamily ligand that normally signals through ACVR1b (also called ALK4) and pSmad2/3 (Hatsell et al., 2015; Lees-Shepard et al., 2018; Hino et al., 2015).
What is activin gene?
Activin A is a member of the TGF-β superfamily, meaning that it is structurally similar to TGF-β1 and signals through the common SMAD2/3 (mothers against decapentaplegic homologues 2 and 3) pathway.
What produces activin A?
Interestingly, activin is produced in both granulosa cells and pituitary gonadotrophs; however, it is the local activin in the pituitary that regulates the FSH. Follistatin is a monomeric protein produced in the pituitary gland as well as ovaries. It appears to neutralize the biological functions of activin.
What is activin A?
Activin-A is a dimeric glycoprotein, which belongs to the transforming growth factor-β (TGF-β) family. It regulates several biological functions, including hormonal homoeostasis, gonadal functions, muscle growth, immunity, inflammation, and bone remodeling (Hedger et al., 2011).
Are BMPs cytokines?
Bone morphogenetic proteins (BMPs) are a group of growth factors also known as cytokines and as metabologens.
Are BMPs Morphogens?
Bone morphogenetic proteins (BMPs) act as morphogens to control patterning and growth in a variety of developing tissues in different species.