SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor
Gene ID: 55164, updated on 19-Sep-2024Gene type: protein coding
Also known as: DYT35; NEDDS; Shq1p; GRIM-1
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- Go to complete Gene record for SHQ1
- Go to Variation Viewer for SHQ1 variants
Summary
SHQ1 assists in the assembly of H/ACA-box ribonucleoproteins that function in the processing of ribosomal RNAs, modification of spliceosomal small nuclear RNAs, and stabilization of telomerase (see MIM 602322) (Grozdanov et al., 2009 [PubMed 19383767]).[supplied by OMIM, Dec 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dystonia 35, childhood-onset | not available |
| Neurodevelopmental disorder with dystonia and seizures | not available |
Genomic context
- Location:
- 3p13
- Sequence:
- Chromosome: 3; NC_000003.12 (72725272..72848445, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SHQ1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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