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.


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



Sun Y et al. (2012) Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

external link

Frattini A et al. (1996) Computer gene mapping by Eagl-based STSs.

external link

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.

external link

Mazzarella R et al. (1998) Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.

external link

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

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

external link

Orphanet article

Orphanet ID 330232 external link

NCBI article

NCBI 3547 external link

OMIM.ORG article

Omim 300137 external link

Wikipedia article

Wikipedia EN (IGSF1) external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits