Hypoproteinemia, hypercatabolic: genes and variants
Hypoproteinemia, hypercatabolic is linked to 1 analyzed protein (B2M). 1 DNA variants are known to cause it; 31 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hypoproteinemia, hypercatabolic
B2M: Beta-2-microglobulin
It is required for stable surface expression of MHC class I molecules and therefore for presentation of intracellular peptides to CD8 T cells. Loss of expression can help tumors evade immune recognition, while circulating beta-2-microglobulin is also used as a biomarker in several hematologic diseases.
1 disease-causing and 31 uncertain variants in B2M are linked to Hypoproteinemia, hypercatabolic.
Known disease-causing variants in Hypoproteinemia, hypercatabolic
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| B2M M1T | 1 | Disease-causing (★) |
Diseases related to Hypoproteinemia, hypercatabolic
- Amyloidosis, hereditary systemic 1, also linked to B2M
Frequently asked questions
Which genes are linked to Hypoproteinemia, hypercatabolic?
In CATVariant, Hypoproteinemia, hypercatabolic is linked to 1 analyzed protein: B2M (Beta-2-microglobulin).
How many genetic variants are linked to Hypoproteinemia, hypercatabolic?
32 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 31 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypoproteinemia, hypercatabolic 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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