Relapsing remitting multiple sclerosis: genes and variants
Relapsing remitting multiple sclerosis is linked to 3 analyzed proteins (KEAP1, MS4A1 and HNRNPA1). 2 DNA variants are known to cause it; 2 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: relapsing-remitting multiple sclerosis
Genes linked to Relapsing remitting multiple sclerosis
KEAP1: Kelch-like ECH-associated protein 1
It continuously targets NRF2 for degradation under basal conditions but releases this brake when reactive electrophiles or oxidative stress modify KEAP1. Somatic loss-of-function variants can lock tumors into a persistent antioxidant state that promotes survival and treatment resistance.
0 disease-causing and 0 uncertain variants in KEAP1 are linked to Relapsing remitting multiple sclerosis.
MS4A1: B-lymphocyte antigen CD20
Its expression spans much of B-cell development and contributes to calcium signaling and B-cell activation. Its stable surface expression makes it a major therapeutic target for B-cell depletion in lymphoma, leukemia, and autoimmune disease.
0 disease-causing and 0 uncertain variants in MS4A1 are linked to Relapsing remitting multiple sclerosis.
HNRNPA1: Heterogeneous nuclear ribonucleoprotein A1
It regulates pre-mRNA splicing, RNA transport, translation, and stress-granule dynamics through RNA binding and reversible self-assembly. Rare pathogenic variants can cause multisystem proteinopathy, amyotrophic lateral sclerosis, or related neuromuscular degeneration through altered RNA and protein homeostasis.
2 disease-causing and 2 uncertain variants in HNRNPA1 are linked to Relapsing remitting multiple sclerosis.
Known disease-causing variants in Relapsing remitting multiple sclerosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HNRNPA1 M328L | 328 | Nuclear targeting sequence (M9) | Disease-causing |
| HNRNPA1 N332S | 332 | Nuclear targeting sequence (M9) | Disease-causing |
Same protein, different disease
- Chronic progressive multiple sclerosis is also caused by HNRNPA1 variants; they fall mostly in different places as the Relapsing remitting multiple sclerosis variants (14 disease-causing).
Diseases related to Relapsing remitting multiple sclerosis
- Amyotrophic lateral sclerosis, also linked to HNRNPA1
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, also linked to HNRNPA1
- Non-small cell lung carcinoma, also linked to KEAP1
- Chronic progressive multiple sclerosis, also linked to HNRNPA1
- Lung adenocarcinoma, also linked to KEAP1
- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, also linked to HNRNPA1
Frequently asked questions
Which genes are linked to Relapsing remitting multiple sclerosis?
In CATVariant, Relapsing remitting multiple sclerosis is linked to 3 analyzed proteins: KEAP1 (Kelch-like ECH-associated protein 1), MS4A1 (B-lymphocyte antigen CD20) and HNRNPA1 (Heterogeneous nuclear ribonucleoprotein A1).
How many genetic variants are linked to Relapsing remitting multiple sclerosis?
7 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2 are of uncertain significance or have conflicting reports.
Which uncertain variants in Relapsing remitting multiple sclerosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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