Mar 28, 2025 · COL9A1 (Collagen Type IX Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL9A1 include Epiphyseal Dysplasia, Multiple, 6 and Stickler Syndrome, …

The COL9A1 gene provides instructions for making part of a large molecule called type IX collagen. Learn about this gene and related health conditions.

COL9A1 is the fourth identified gene that can cause Stickler syndrome. Data show that the proximal-promoter region of the human COL9A1 gene can drive expression of a reporter gene …

The mutation in COL9A1 identified in one family represents the first human disease-causing mutation ever reported in connection with this gene. Since COL9A1 contains six additional …

Dec 5, 2014 · HGNC Approved Gene Symbol: COL9A1. Cytogenetic location: 6q13 Genomic coordinates (GRCh38) : 6:70,215,061-70,303,084 (from NCBI) Type II collagen (120140) …

Title: Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype. The present study emphasizes the …

We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD. Kashin-Beck disease (KBD) is a chronic …

Dec 3, 2023 · Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack …

At least one mutation in the COL9A1 gene has been found to cause dominant multiple epiphyseal dysplasia, a disorder of cartilage and bone development that primarily affects the ends of the …

Gene Ontology (GO) annotations organized by slimming set. A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short …