Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Abnormal thyroid hormone metabolism
SECISBP2

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: April 29, 2019