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Results 1 - 10 of 55 for Block vertebrae
  1. MESP2 gene 
    ... activating) genes in the Notch pathway, which ultimately block (repress) the activity of the NOTCH1 protein. Additionally, through unknown mechanisms, the MESP2 protein seems to mark the boundary separating future vertebrae from one another. MedlinePlus Genetics provides information about ...
    https://medlineplus.gov/genetics/gene/mesp2 - Genetics
  2. IL1A gene 
    ... inflammation (chronic inflammatory arthritis) that primarily affects the spine. Each of these variations changes a single protein building block (amino acid) in interleukin-1 alpha. It is ...
    https://medlineplus.gov/genetics/gene/il1a - Genetics
  3. GDF6 gene 
    ... cause Klippel-Feil syndrome replace single protein building blocks (amino acids) in the GDF6 protein. These mutations likely lead to a reduction in functional protein. Although the GDF6 protein is involved in bone growth and the formation of vertebrae, it is unclear how a shortage of this ...
    https://medlineplus.gov/genetics/gene/gdf6 - Genetics
  4. ERAP1 gene 
    ... inflammation (chronic inflammatory arthritis) that primarily affects the spine. Each of the ERAP1 gene variants changes a single protein building block (amino acid) in endoplasmic reticulum aminopeptidase 1. Individuals ...
    https://medlineplus.gov/genetics/gene/erap1 - Genetics
  5. GDF3 gene 
    ... cause Klippel-Feil syndrome replace single protein building blocks (amino ... the cervical vertebrae in people with Klippel-Feil syndrome. More About ...
    https://medlineplus.gov/genetics/gene/gdf3 - Genetics
  6. Campomelic dysplasia 
    ... upper respiratory tract. This abnormality, called laryngotracheomalacia, ... of the spine (scoliosis) and other spine abnormalities that compress the ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  7. SELENON gene 
    ... selenoprotein N. Other mutations change single protein building blocks (amino ... found to cause rigid spine muscular dystrophy 1 (RSMD1). In people with this ...
    https://medlineplus.gov/genetics/gene/selenon - Genetics
  8. IL23R gene 
    ... inflammation (chronic inflammatory arthritis) that primarily affects the spine. One of these IL23R gene polymorphisms appears to reduce the likelihood of developing this disorder. This genetic change alters a single protein building block (amino acid) in the IL-23 receptor, replacing ...
    https://medlineplus.gov/genetics/gene/il23r - Genetics
  9. EXT2 gene 
    ... individuals also have an abnormal curvature of the spine (scoliosis), an ... protein building blocks (amino acids) in the exostosin-2 protein. These ...
    https://medlineplus.gov/genetics/gene/ext2 - Genetics
  10. COL2A1 gene 
    ... lack of normal bone formation (ossification) in the spine and hips. These ... of the protein building blocks (amino acids) used to make the pro-alpha1( ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
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