2024年12月24日 · COL9A1 (Collagen Type IX Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL9A1 include Epiphyseal Dysplasia, Multiple, 6 and Stickler Syndrome, Type Iv. Among its related pathways are Collagen chain trimerization and Integrin Pathway.

该基因编码 IX 型胶原蛋白的三个 α 链之一，它是透明软骨的次要 (5-20%) 胶原蛋白成分。 IX 型胶原蛋白通常存在于含有 II 型胶原蛋白 (一种纤维状胶原蛋白) 的组织中。 对敲除小鼠的研究表明，α1 链的合成对于 IX 型胶原蛋白分子 (一种异源三聚体分子) 的组装至关重要，并且缺乏 IX 型胶原蛋白与早发性骨关节炎有关。 该基因的突变与人类骨关节炎、多发性骨骺发育不良 6 (软骨发育不良的一种形式) 和斯蒂克勒综合征 (一种以眼科、口面部、关节和听觉缺陷为特征的疾病) 有 …

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 in chondrocytic RCS cells, but not in nonchondrocytic cell lines.

Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene. [5] [6] This gene encodes one of the three alpha chains of type IX collagen, a collagen component of hyaline cartilage. Type IX collagen is usually found in …

2014年12月5日 · HGNC Approved Gene Symbol: COL9A1. Cytogenetic location: 6q13 Genomic coordinates (GRCh38) : 6:70,215,061-70,303,084 (from NCBI) Type II collagen (120140) represents about 85% of the collagen of hyaline cartilage. In …

2023年12月3日 · Clinical resource with information about COL9A1, Epiphyseal dysplasia, multiple, 6, Stickler syndrome, type 4, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

胶原 α-1(IX) 链 (COL9A1) 是 IX 型胶原的三条 α 链之一，是透明软骨的少量 (5~20%) 胶原成分，也是眼内玻璃体的结构成分。COL9A1 链的合成对于 IX 型胶原分子的组装至关重要，COL9A1 的突变与人类骨关节炎、多发性骨骺发育不良以及 Stickler 综合征相关。

Orthologous to human COL9A1 (collagen type IX alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]

col9a1的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为这个基因编码ix型胶原蛋白，它是一个较小的（5-20??％）的透明软骨的胶原成分的3个字母链之一。