T - Brachyury protein - human protein (Medical)
 
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Protein
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T »  Brachyury protein
 
Protein also known as:  Protein T.
Gene name:  T
Entry whose protein(s) existence is based on evidence at transcript level
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1 43 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
Chordoma (CHDM) [MIM:215400]: Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Cervical spina bifida aperta  268392  
Cervical spina bifida cystica  268762  
Cervicothoracic spina bifida aperta  268397  
Cervicothoracic spina bifida cystica  268766  
Chordoma  178  
Lumbosacral spina bifida aperta  268388  
Lumbosacral spina bifida cystica  268758  
Thoracolumbosacral spina bifida aperta  268384  
Thoracolumbosacral spina bifida cystica  268752  
Total spina bifida aperta  268377  
Total spina bifida cystica  268748  
Upper thoracic spina bifida aperta  268740  
Upper thoracic spina bifida cystica  268770  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 6862
MIM: 215400
MIM: 182940
PharmGKB: PA36296
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.