SGCG : sarcoglycan gamma
Description
SGCG, also known as DNAH5, encodes for the heavy chain of axonemal dynein 5, a crucial protein involved in the movement of cilia and flagella. These tiny hair-like structures play vital roles in various bodily functions, including airway clearance, fertility, and cerebrospinal fluid circulation. Mutations in SGCG can disrupt the proper functioning of these structures, leading to a rare but serious genetic disorder called primary ciliary dyskinesia (PCD). PCD affects multiple organ systems, particularly the respiratory and reproductive systems, and can present with a wide range of symptoms, including chronic respiratory infections, infertility, and situs inversus (reversed organ arrangement).
Associated Diseases
Did you know?
SGCG is one of the largest known human genes, spanning over 2 million base pairs on chromosome 15.
