Selenocysteine insertion sequence-binding protein 2
The SECISBP2 gene encodes a selenoprotein which is involved in translation control. Mutations cause autosomal recessive short stature-delayed bone age due to thyroid hormone metabolism deficiency.
Genetests:
Related Diseases:
References:
1. |
Dumitrescu AM et al. (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
|
2. |
Copeland PR et al. (2000) A novel RNA binding protein, SBP2, is required for the translation of mammalian selenoprotein mRNAs.
|
3. |
Lescure A et al. (2002) cDNA cloning, expression pattern and RNA binding analysis of human selenocysteine insertion sequence (SECIS) binding protein 2.
|
4. |
Zavacki AM et al. (2003) Coupled tRNA(Sec)-dependent assembly of the selenocysteine decoding apparatus.
|
5. |
NCBI article
NCBI 79048
|
6. |
OMIM.ORG article
Omim 607693
|
7. |
Orphanet article
Orphanet ID 181119
|
8. |
Wikipedia article
Wikipedia EN (SECISBP2)
|
Update: Aug. 14, 2020