T - Brachyury protein - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
T »  Brachyury protein
 
Protein also known as:  Protein T.
Gene name:  T
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 48 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
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.  
2
  • UniProtKB
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.  
2
  • UniProtKB
Sacral agenesis with vertebral anomalies (SAVA) [MIM:615709]: A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • UniProtKB
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  
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome  397927  
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

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 6862
MIM: 215400
MIM: 182940
MIM: 615709
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.