CDGSH iron sulfur domain 2
Mutations in this gene cause autosomal recessive Wolfram syndrome type 2.
Genetests:
Related Diseases:
References:
1. |
El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
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2. |
Amr S et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
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3. |
Chen YF et al. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.
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4. |
OMIM.ORG article
Omim 604928
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5. |
NCBI article
NCBI 493856
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6. |
Orphanet article
Orphanet ID 166722
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7. |
Wikipedia article
Wikipedia EN (CISD2)
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Update: Aug. 14, 2020