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ACVR1

ACVR1

Reviewed August 2007

What is the official name of the ACVR1 gene?

The official name of this gene is “activin A receptor, type I.”

ACVR1 is the gene's official symbol. The ACVR1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the ACVR1 gene?

The ACVR1 gene provides instructions for making the activin receptor type I 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.

Activin receptor type I 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.

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

How are changes in the ACVR1 gene related to health conditions?

fibrodysplasia ossificans progressiva - caused by mutations in the ACVR1 gene

All individuals with a definite diagnosis of fibrodysplasia ossificans progressiva have a mutation in which the protein building block (amino acid) histidine is substituted for the amino acid arginine at position 206 of the ACVR1 protein (written as Arg206His or R206H). Researchers believe that under certain conditions this mutation may change the shape of the receptor. This shape change may disrupt the binding of an inhibitor protein such as FKBP12 or interfere with other mechanisms that control activation. As a result, the receptor may be constantly activated (constitutive activation), even in the absence of ligands. Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.

Where is the ACVR1 gene located?

Cytogenetic Location: 2q23-q24

Molecular Location on chromosome 2: base pairs 157,736,445 to 157,875,861

The ACVR1 gene is located on the long (q) arm of chromosome 2 between positions 23 and 24.

The ACVR1 gene is located on the long (q) arm of chromosome 2 between positions 23 and 24.

More precisely, the ACVR1 gene is located from base pair 157,736,445 to base pair 157,875,861 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about ACVR1?

You and your healthcare professional may find the following resources about ACVR1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the ACVR1 gene or gene products?

  • activin A receptor, type II-like kinase 2
  • activin A type I receptor
  • activin A type I receptor precursor
  • ACTRI
  • ActR-IA protein, human
  • ACVR1A
  • ACVR1_HUMAN
  • ACVRLK2
  • ALK2
  • hydroxyalkyl-protein kinase
  • SKR1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ACVR1?

amino acid ; arginine ; cartilage ; cell ; cell membrane ; constitutive ; diagnosis ; gene ; histidine ; kinase ; ligand ; mutation ; ossification ; precursor ; protein ; receptor ; skeletal muscle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (13 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: August 2007
Published: August 18, 2014