Zinc-finger-Protein GLIS2
Das Gen GLIS2 kodiert einen Transkriptionsfaktor. Mutationen in diesem Gen sind für die autosomal rezessive Ciliopathie Nephronophthise 7 verantwortlich.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
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2. |
Attanasio M et al. (2007) Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
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3. |
Zhang F et al. (2001) Genomic structure of the gene encoding the human GLI-related, Krüppel-like zinc finger protein GLIS2.
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4. |
Zhang F et al. (2002) Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis.
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5. |
NCBI article
NCBI 84662
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6. |
OMIM.ORG article
Omim 608539
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7. |
Orphanet article
Orphanet ID 168309
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Update: 14. August 2020