HLTF helicase like transcription factor
Gene ID: 6596, updated on 17-Sep-2024Gene type: protein coding
Also known as: ZBU1; HLTF1; RNF80; HIP116; SNF2L3; HIP116A; SMARCA3
- See all available tests in GTR for this gene
- Go to complete Gene record for HLTF
- Go to Variation Viewer for HLTF variants
Summary
This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 3q24
- Sequence:
- Chromosome: 3; NC_000003.12 (149030063..149086533, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HLTF variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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