What is ACVR1 code?
The ACVR1 gene provides instructions for making the activin receptor type-1 (ACVR1) protein, which is a member of a protein family called bone morphogenetic protein (BMP) type I receptors.
What is the function of ACVR1?
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation.
What chromosome is ACVR1 on?
ACVR1 has been linked to the 2q23-24 region of the genome….
| ACVR1 | ||
|---|---|---|
| Location (UCSC) | Chr 2: 157.74 – 157.88 Mb | Chr 2: 58.39 – 58.57 Mb |
| PubMed search | ||
| Wikidata | ||
| View/Edit Human View/Edit Mouse |
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 FOP disease?
Fibrodysplasia ossificans progressiva (FOP) is a very rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons, and skeletal muscles.
What is the function of the ACVR1 gene?
Learn more The ACVR1 gene provides instructions for making the activin receptor type-1 (ACVR1) protein, which is a member of a protein family called bone morphogenetic protein (BMP) type I receptors.
Which is activin receptor type I in humans?
Activin A receptor, type I ( ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2 ( a ctivin receptor- l ike k inase-2). ACVR1 has been linked to the 2q23-24 region of the genome.
Is the ACVR1 gene mutated in FOP?
In 2006, whole genome genetic linkage analysis and positional cloning using five families with a classic clinical presentation of FOP identified ACVR1 (activin A type I receptor) as the mutated gene in FOP. 42 The ACVR1 gene encodes a type I receptor for bone morphogenetic proteins (BMPs) that is also known as ALK2 (activin-like kinase 2).
How is ACVR1 linked to bone morphogenic protein pathway?
ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to Fibrodysplasia Ossificans Progressiva,…