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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.
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. [provided by RefSeq, Jul 2008]
May mediate cell differentiation events during embryonic development.
The disease is caused by mutations affecting the gene represented in this entry.
|||208530 (http://omim.org/entry/208530)||RIGHT ATRIAL ISOMERISM|
|||217095 (http://omim.org/entry/217095)||CONOTRUNCAL HEART MALFORMATIONS|
|||187500 (http://omim.org/entry/187500)||TETRALOGY OF FALLOT|
|||613854 (http://omim.org/entry/613854)||TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3|
|602880 (http://omim.org/entry/602880)||GROWTH/DIFFERENTIATION FACTOR 1|
Cytogenetic Location: 19p12
Molecular Location on chromosome 19: base pairs 18,979,360 to 19,006,952
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 18,979,360 to base pair 19,006,952 on chromosome 19.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
arteries ; bilateral ; cell ; differentiation ; embryonic ; gene ; mediate ; mRNA ; protein ; tetralogy of Fallot
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.