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HELLS
helicase, lymphoid specific
The HELLS gene provides instructions for a protein that is crucial for DNA replication, repair, and maintaining genomic stability within cells. The HELLS gene encodes a protein named helicase, lymphoid specific, which plays a vital role in several fundamental cellular processes.
HELLS is located on the long (q) arm of chromosome 10, at band 10q23.33. Arm ratio per GRCh38 - banding schematic.
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Overview
The HELLS gene, short for helicase, lymphoid specific, is involved in fundamental cellular activities. The protein it encodes is a chromatin remodeller, meaning it can alter the structure of chromatin - the complex of DNA and proteins that forms chromosomes. This remodelling is crucial for processes like DNA replication, DNA repair, and gene expression, all of which are essential for normal cell function and preventing uncontrolled cell growth.
What the gene does
The HELLS protein acts as a helicase, a type of enzyme that unwinds nucleic acid duplexes, such as double-stranded DNA. This unwinding activity is fundamental for separating DNA strands during replication and repair processes, allowing other enzymes to access the DNA sequence. Its chromatin remodelling activity is particularly important for epigenetic regulation, influencing how genes are switched on or off without altering the underlying DNA sequence. Additionally, the HELLS protein has been implicated in maintaining centromere integrity, which is vital for correct chromosome segregation during cell division, thereby contributing to genetic stability.
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Chromosome location
The HELLS gene is situated on chromosome 10 at band 10q23.33. This precise location specifies its position on the long arm of chromosome 10. The human genome comprises 23 pairs of chromosomes, and the arrangement of genes like HELLS along these chromosomes is highly organised.
Protein structure
The HELLS protein consists of 838 amino acids. Key functional regions, known as protein domains, contribute to its activity. These include a Coiled coil region from amino acids 30-115, a Disordered region from amino acids 94-135, and a Helicase ATP-binding domain spanning amino acids 235-403. Within the ATP-binding domain, a specific motif called the DEAH box is found from amino acids 354-357. Towards the C-terminal end, there is a Helicase C-terminal domain from amino acids 603-767.
Key variants
Genetic variations, or variants, in the HELLS gene refer to differences in its DNA sequence. These variants can range from single nucleotide changes to larger deletions or insertions. Depending on their nature and location, some variants may influence the production, structure, or function of the HELLS protein, potentially affecting the cellular processes it regulates.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.370+2T>A | - | Pathogenic | ★★☆☆ | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
GRCh37/hg19 10q23.33(chr10:96305860-96415962)x1 | - | Pathogenic | ★☆☆☆ | not specified |
c.1158_1159delinsTT | p.Leu386_Gln387delinsPheTer | Pathogenic | ★☆☆☆ | not provided |
c.1293_1296del | p.Arg432fs | Pathogenic | ★☆☆☆ | not provided |
c.1390C>T | p.Arg464Ter | Pathogenic | ★☆☆☆ | not provided |
c.1528C>T | p.Arg510Ter | Pathogenic | ★☆☆☆ | not provided |
c.1681C>T | p.Gln561Ter | Pathogenic | ★☆☆☆ | not provided |
c.1816C>T | p.Arg606Ter | Pathogenic | ★☆☆☆ | not provided |
c.301G>T | p.Glu101Ter | Pathogenic | ★☆☆☆ | not provided |
c.715del | p.Glu239fs | Pathogenic | ★☆☆☆ | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Currently, no specific conditions are directly and consistently associated with variants in the HELLS gene in the published literature. Ongoing research continues to explore the full spectrum of its biological roles and potential links to human health.
No disease links recorded for this gene in our reference set.
UK clinical status
The HELLS gene is included on several UK National Health Service (NHS) Genomic Medicine Service national panels. Specifically, it is present on the COVID-19 research panel and the Primary immunodeficiency or monogenic inflammatory bowel disease (R15) panel.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the main function of the HELLS gene?
The HELLS gene produces a protein that acts as a helicase and chromatin remodeller. This protein is essential for unwinding DNA during replication and repair, and for modifying chromatin structure to regulate gene expression and maintain genomic stability.
Where is the HELLS gene located?
The HELLS gene is located on chromosome 10. Its precise position is on the long arm of this chromosome, at band 10q23.33.
Are there any specific medical conditions associated with changes in the HELLS gene?
Based on current clinical understanding, there are no specific medical conditions definitively and consistently linked to variations in the HELLS gene. Research into its comprehensive biological roles is still ongoing.