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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


The information on this page was automatically extracted from online scientific databases.

What is the official name of the GDF1 gene?

The official name of this gene is “growth differentiation factor 1.”

GDF1 is the gene's official symbol. The GDF1 gene is also known by other names, listed below.

What is the normal function of the GDF1 gene?

From NCBI Gene (

This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site that is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Studies in rodents suggest that this protein is involved in the establishment of left-right asymmetry in early embryogenesis and in neural development in later embryogenesis. This protein is transcribed from a bicistronic mRNA that also encodes the longevity assurance gene. Mutations in this gene are associated with several congenital cardiovascular malformations. [provided by RefSeq, Mar 2014]

From UniProt (

May mediate cell differentiation events during embryonic development.

How are changes in the GDF1 gene related to health conditions?

Genetics Home Reference provides information about critical congenital heart disease, which is associated with changes in the GDF1 gene.
UniProt ( provides the following information about the GDF1 gene's known or predicted involvement in human disease.

Conotruncal heart malformations (CTHM): A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.[1] The disease is caused by mutations affecting the gene represented in this entry.

Transposition of the great arteries dextro-looped 3 (DTGA3): A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.[2] The disease is caused by mutations affecting the gene represented in this entry.

Tetralogy of Fallot (TOF): A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.[3] The disease is caused by mutations affecting the gene represented in this entry.

Right atrial isomerism (RAI): A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs.[4] The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene ( lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the GDF1 gene.
  • Bilateral right-sidedness sequence[4]
  • Conotruncal heart malformations[1]
  • Tetralogy of Fallot[3]
  • Transposition of the great arteries, dextro-looped 3[2]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Main Topic

Where is the GDF1 gene located?

Cytogenetic Location: 19p12

Molecular Location on chromosome 19: base pairs 18,868,551 to 18,896,143

The GDF1 gene is located on the short (p) arm of chromosome 19 at position 12.

The GDF1 gene is located on the short (p) arm of chromosome 19 at position 12.

More precisely, the GDF1 gene is located from base pair 18,868,551 to base pair 18,896,143 on chromosome 19.

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

Where can I find additional information about GDF1?

You and your healthcare professional may find the following resources about GDF1 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 GDF1 gene or gene products?

  • DORV
  • DTGA3
  • RAI

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding GDF1?

aorta ; arteries ; artery ; atrial ; atrium ; axis ; bilateral ; cardiac ; cardiovascular ; cell ; congenital ; cyanosis ; cysteine ; differentiation ; embryonic ; gene ; hypertrophy ; inversion ; mediate ; mRNA ; oxygen ; protein ; pulmonary ; pulmonary artery ; pulmonary stenosis ; septal defect ; situs inversus ; stenosis ; surgical ; tetralogy of Fallot ; ventricle

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


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.

Published: July 28, 2014