GDF1: Difference between revisions
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'''GDF1''' | |||
{{Infobox gene | |||
| name = GDF1 | |||
| symbol = GDF1 | |||
| HGNCid = 4217 | |||
| OMIM = 602880 | |||
| EntrezGene = 2657 | |||
| RefSeq = NM_001492 | |||
| UniProt = P27539 | |||
| chromosome = 19 | |||
| arm = p | |||
| band = 13.11 | |||
}} | |||
'''GDF1''' ('''Growth Differentiation Factor 1''') is a protein that in humans is encoded by the [[GDF1 gene]]. It is a member of the [[transforming growth factor beta]] (TGF-β) superfamily, which is involved in the regulation of cell growth and differentiation in both embryonic and adult tissues. | |||
== Function == | == Function == | ||
GDF1 is a | GDF1 is known to play a critical role in [[embryonic development]], particularly in the formation of the [[left-right asymmetry]] of the body. It is involved in the [[nodal signaling pathway]], which is essential for the proper development of the [[heart]], [[brain]], and other organs. | ||
== Clinical Significance == | == Clinical Significance == | ||
Mutations in the GDF1 gene have been | Mutations in the GDF1 gene have been associated with several congenital heart defects, including [[transposition of the great arteries]], [[double outlet right ventricle]], and [[ventricular septal defect]]. These conditions are part of a group of disorders known as [[congenital heart disease]]. | ||
[[ | == Interactions == | ||
GDF1 interacts with other proteins in the TGF-β superfamily, such as [[Nodal]], to mediate its effects on cell differentiation and development. It also interacts with [[receptors]] on the cell surface to initiate intracellular signaling cascades. | |||
== Research == | == Research == | ||
Research | Research on GDF1 continues to explore its role in developmental biology and its potential implications in [[genetic disorders]]. Studies are also investigating its function in [[adult tissue homeostasis]] and [[regeneration]]. | ||
== See Also == | == See Also == | ||
* [[ | * [[Growth Differentiation Factor]] | ||
* [[TGF-beta]] | * [[TGF-beta signaling pathway]] | ||
* [[Congenital heart disease]] | * [[Congenital heart disease]] | ||
== References == | == References == | ||
{{reflist}} | |||
== External Links == | |||
* [https://www.ncbi.nlm.nih.gov/gene/2657 GDF1 Gene - NCBI] | |||
* [https://www.uniprot.org/uniprot/P27539 GDF1 Protein - UniProt] | |||
[[Category: | [[Category:Genes on human chromosome 19]] | ||
[[Category: | [[Category:Growth factors]] | ||
[[Category: | [[Category:Developmental genes and proteins]] | ||
[[Category: | [[Category:Congenital heart defects]] | ||
Latest revision as of 20:48, 30 December 2024
| Symbol | GDF1 |
|---|---|
| HGNC ID | 4217 |
| Alternative symbols | – |
| Entrez Gene | 2657 |
| OMIM | 602880 |
| RefSeq | NM_001492 |
| UniProt | P27539 |
| Chromosome | 19p13.11 |
| Locus supplementary data | – |
GDF1 (Growth Differentiation Factor 1) is a protein that in humans is encoded by the GDF1 gene. It is a member of the transforming growth factor beta (TGF-β) superfamily, which is involved in the regulation of cell growth and differentiation in both embryonic and adult tissues.
Function[edit]
GDF1 is known to play a critical role in embryonic development, particularly in the formation of the left-right asymmetry of the body. It is involved in the nodal signaling pathway, which is essential for the proper development of the heart, brain, and other organs.
Clinical Significance[edit]
Mutations in the GDF1 gene have been associated with several congenital heart defects, including transposition of the great arteries, double outlet right ventricle, and ventricular septal defect. These conditions are part of a group of disorders known as congenital heart disease.
Interactions[edit]
GDF1 interacts with other proteins in the TGF-β superfamily, such as Nodal, to mediate its effects on cell differentiation and development. It also interacts with receptors on the cell surface to initiate intracellular signaling cascades.
Research[edit]
Research on GDF1 continues to explore its role in developmental biology and its potential implications in genetic disorders. Studies are also investigating its function in adult tissue homeostasis and regeneration.
See Also[edit]
References[edit]
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