HDGFRP2
hdgfrp2: A Crucial Gene for Skeletal and Dermal Development
Description
HDGFRP2 (Heparan Sulfate Proteoglycan 2) is a gene that encodes a protein known as heparan sulfate proteoglycan 2. This protein plays a critical role in the development and maintenance of skeletal structures and the dermal layer of the skin.
Heparan sulfate proteoglycan 2 is a large, complex molecule composed of a protein core with attached heparan sulfate chains. These chains interact with various growth factors and signaling molecules, regulating their activity and controlling important cellular processes.
Associated Diseases
Mutations in the HDGFRP2 gene have been linked to several disorders, including:
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Congenital Diaphragmatic Hernia (CDH): CDH is a severe birth defect characterized by a hole in the diaphragm, the muscle separating the chest and abdomen. Mutations in HDGFRP2 have been identified as a major cause of non-syndromic CDH.
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Floating-Harbor Syndrome (FHS): FHS is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. Mutations in HDGFRP2 are responsible for most cases of FHS.
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Orofacial Clefts: Mutations in HDGFRP2 have also been associated with cleft lip and palate, common birth defects involving the development of the face and mouth.
Did you Know ?
Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns, making it the most common birth defect involving the diaphragm.
