SGCB : sarcoglycan beta

Description

The SGCB gene, encodes for the protein serine/threonine-protein kinase 38 (SGK38). This protein is essential for proper skeletal development, particularly in the growth and differentiation of chondrocytes, the cells responsible for cartilage formation. SGK38 plays a crucial role in regulating cell signaling pathways that control chondrocyte proliferation, survival, and matrix production. Mutations in the SGCB gene can lead to various skeletal abnormalities, highlighting the critical function of this gene in maintaining healthy bone growth.

Associated Diseases

• Achondrogenesis type 1A (ACG1A)
• Achondrogenesis type 1B (ACG1B)
• Severe Short Stature
• Spondyloepiphyseal dysplasia
• Multiple Epiphyseal Dysplasia
• Dysplasia Epiphysealis Hemimelica
• Cartilage-Hair Hypoplasia

Did you know?

SGCB gene mutations can lead to a wide spectrum of skeletal disorders, ranging from severe achondrogenesis to milder forms of short stature. This variability reflects the complex interplay of SGCB gene function in chondrocyte development and signaling.