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ACVR1 Gene

activin A receptor type 1

ALIAS SYMBOLS

  • SKR1

  • ALK2

  • ACVR1A

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Description

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. BMP receptors span the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This arrangement allows receptors to receive signals from outside the cell and transmit them inside to affect cell development and function.

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.

The ACVR1 protein is normally turned on (activated) at appropriate times by molecules called ligands. Activation may occur when these ligands, such as BMPs or a protein called activin A, attach (bind) to the receptor or to other proteins with which it forms a complex. Another protein called FKBP12 can turn off (inhibit) ACVR1 by binding to the receptor and preventing inappropriate (leaky) activation in the absence of ligands.

CHROMOSOME

2

LOCATION

q24.1

LOCUS TYPE

gene with protein product

VARIANTS

127

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Phenotypes

Progressive myositis ossificans

Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.

Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.

Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza.

People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.

External Links

  • HGNC

    HGNC:171

  • Ensembl

    ENSG00000115170

  • NCBI

    90

  • OMIM

    102576

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