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

Related Diseases:

Abnormal thyroid hormone metabolism
SECISBP2

References:

1.

Copeland PR et. al. (2000) A novel RNA binding protein, SBP2, is required for the translation of mammalian selenoprotein mRNAs.

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2.

Lescure A et. al. (2002) cDNA cloning, expression pattern and RNA binding analysis of human selenocysteine insertion sequence (SECIS) binding protein 2.

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3.

Zavacki AM et. al. (2003) Coupled tRNA(Sec)-dependent assembly of the selenocysteine decoding apparatus.

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4.

Dumitrescu AM et. al. (2005) Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.

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Update: Sept. 26, 2018