Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Immunoglobulin superfamily member 1

The IGSF1 gene encodes a receptor protein expressed in the pituitary gland. Mutations cause central hypothyroidism and testicular enlargement.

Genetests:

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

Related Diseases:

Central hypothyroidism and testicular enlargement
IGSF1

References:

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.

external link
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.

external link
6.

Bernard DJ et al. (2003) Normal reproductive function in InhBP/p120-deficient mice.

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7.

Orphanet article

Orphanet ID 330232 external link
8.

NCBI article

NCBI 3547 external link
9.

OMIM.ORG article

Omim 300137 external link
10.

Wikipedia article

Wikipedia EN (IGSF1) external link
Update: Aug. 14, 2020
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