Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The IGSF1 gene encodes a receptor protein expressed in the pituitary gland. Mutations cause central hypothyroidism and testicular enlargement.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Sun Y et al. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. 
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| 2. |
Frattini A et al. (1996) Computer gene mapping by Eagl-based STSs.
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| 3. |
Nagase T et al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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| 4. |
Mazzarella R et al. (1998) Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.
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| 5. |
Frattini A et al. (1998) Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25.
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| 6. |
Bernard DJ et al. (2003) Normal reproductive function in InhBP/p120-deficient mice.
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| 7. |
Orphanet article Orphanet ID 330232
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| 8. |
NCBI article NCBI 3547
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| 9. |
OMIM.ORG article Omim 300137
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| 10. |
Wikipedia article Wikipedia EN (IGSF1)
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