HELZ Chromosome 17
Helicase with zinc finger
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What This Gene Does
HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Zinc fingers CCCH-type|UPF1 like RNA helicases"
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000198265
Associated Conditions (1)
Abnormal brain morphology
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499747 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |