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- Aggrecan - Wikipedia
Aggrecan (ACAN), also known as cartilage-specific proteoglycan core protein (CSPCP) or chondroitin sulfate proteoglycan 1, is a protein that in humans is encoded by the ACAN gene [5]
- ACAN mutations as a cause of familial short stature - PMC
At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature This review provides an overview of the current understanding of ACAN and the clinical and genetic findings concerning aggrecan-associated diseases
- ACAN Gene - GeneCards | PGCA Protein | PGCA Antibody
ACAN (Aggrecan) is a Protein Coding gene Diseases associated with ACAN include Spondyloepimetaphyseal Dysplasia, Aggrecan Type and Spondyloepiphyseal Dysplasia, Kimberley Type Among its related pathways are Integrin Pathway and Keratan sulfate biosynthesis
- ACAN gene: MedlinePlus Genetics
Aggrecan is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it It is the most abundant proteoglycan in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development
- ACAN Gene: Function, Mutations, and Related Conditions
The ACAN gene provides the instructions for a protein essential for the body’s skeletal framework, directing a core component for the healthy development of cartilage and bone Its role is prominent during early development when the skeleton is first forming
- Genotype and phenotype in patients with ACAN gene variants . . . - PubMed
Our study achieves a new understanding of the phenotypic spectrum, diagnosis, and management of individuals with ACAN variants No clear genotype-phenotype relationship of patients with ACAN variants was found
- Tracing the history of aggrecan gene mutations
A research team receives the 2019 Human Growth Award for a clinical trial of growth hormone treatment provided to patients with short stature due to aggrecan deficiency Read about one patient's journey, which traces the aggrecan gene (ACAN) mutation back four generations
- Entry - *155760 - AGGRECAN; ACAN - OMIM - (OMIM. ORG)
HGNC Approved Gene Symbol: ACAN Aggrecan is a major component of cartilage extracellular matrix The extent of glycosaminoglycan side chain substitution in aggrecan and resulting fixed charge density attracts counter-ions and water, resulting in swelling pressure that is crucial for the biomechanical properties of cartilage (Day et al , 2004)
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