COL9A1
collagen type IX alpha 1 chain
Normal Function
Health Conditions Related to Genetic Changes
Multiple epiphyseal dysplasia
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 long bones in the arms and legs (epiphyses). The identified mutation, called a splice-site mutation, involves the addition of one DNA building block (nucleotide) near an area of the gene called exon 8 (written as 1-bp ins, IVS8, T, +3). This mutation disrupts the way the gene's instructions are used to make the α1(IX) chain, resulting in a deletion of several protein building blocks (amino acids). It is not known how this mutation in COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia.
More About This Health ConditionRelated Conditions
Multiple epiphyseal dysplasiaStickler syndrome
Health Conditions Related to Genetic Changes
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 long bones in the arms and legs (epiphyses). The identified mutation, called a splice-site mutation, involves the addition of one DNA building block (nucleotide) near an area of the gene called exon 8 (written as 1-bp ins, IVS8, T, +3). This mutation disrupts the way the gene's instructions are used to make the α1(IX) chain, resulting in a deletion of several protein building blocks (amino acids). It is not known how this mutation in COL9A1 causes the signs and symptoms of dominant multiple epiphyseal dysplasia.
MedlinePlus Genetics provides information about Stickler syndrome