Zinc finger protein GLIS2
The gene GLIS2 encodes a transcription factor. Mutations in this gene are associated with autosomal recessive ciliopathy nephronophthisis 7.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
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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8. |
Wikipedia article
Wikipedia EN (GLIS2)
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Update: Aug. 14, 2020