What does the ACVR1 protein do?

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?

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 ACVRL1 gene?

This protein is found on the surface of cells, especially in the lining of developing arteries. The ACVRL1 protein is a receptor. It acts as a “lock” waiting for a specific protein, called its ligand, to serve as the “key.” In the case of the ACVRL1 protein, the ligand is called transforming growth factor beta.

Where is ACVR1 located?

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). This process occurs in normal skeletal maturation from birth to young adulthood.

What are the symptoms of FOP?

Symptoms of FOP include:

  • malformations of the big toe.
  • spontaneous flare-ups of inflammation or soft tissue swelling.
  • increased flare-ups after injury, viral illness, or immunizations.
  • difficulty moving.
  • frequent injury due to falling.

What is HHT?

HHT is a disorder in which some blood vessels do not develop properly. A person with HHT may form blood vessels without the capillaries (tiny blood vessels that pass blood from arteries to veins) that are usually present between arteries and veins.

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.

How is FOP treated?

There are no known effective treatments for FOP but clinical trials are underway. Certain types of drugs have been used to relieve pain and swelling associated with FOP during acute flare-ups (most notably corticosteroids) and non-steroidal anti-inflammatory medication between flare-ups.

Who gets FOP?

Worldwide, FOP affects only about 2,500 people, or one in 2 million, of all ethnicities, ages and races. Because FOP is such a rare disease, experts believe that 80 percent or more of the cases are misdiagnosed and its prevalence may be much higher than known.

What are symptoms of HHT?

Signs. Nosebleeds are the most common sign of HHT, resulting from small abnormal blood vessels within the inside layer of the nose. Abnormal blood vessels in the skin can appear on the hands, fingertips, face, lips, lining of the mouth, and nose as delicate red or purplish spots that lighten briefly when touched.

What causes HHT?

HHT is caused by changes (mutations) in five different genes. It is likely that more genes are yet to be discovered. Mutations of the ENG gene and abnormalities of the protein it produces (endoglin) result in HHT-1. Endoglin is found on the surface of the cells that line the inside of the blood vessels.