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ZIC1 Zic family member 1

Gene ID: 7545, updated on 27-Nov-2024
Gene type: protein coding
Also known as: ZIC; CRS6; BAIDCS; ZNF201

Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Craniosynostosis 6
MedGen: C4225269OMIM: 616602GeneReviews: Not available
See labs
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
GeneReviews: Not available
Structural brain anomalies with impaired intellectual development and craniosynostosis
MedGen: C5231485OMIM: 618736GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2021-07-19)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2021-07-19)

ClinGen Genome Curation Page

Genomic context

Location:
3q24
Sequence:
Chromosome: 3; NC_000003.12 (147409365..147416719)
Total number of exons:
3

Links

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