Immunoglobulin-Superfamilie Mitglied 1
Das IGSF1-Gen kodiert eine Rezeptorprotein in der Hypophyse. Mutationen sind für die x-chromosomale zentrale Hypothyreose und Makroorchidie verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020