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PSMB10

Chr 16q22.1

proteasome 20S subunit beta 10

Aliases:
LMP10, MGC1665, beta2i
MANE:
ENST00000358514.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Autoinflammatory disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Intestinal failure or congenital diarrhoea

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare genetic inflammatory skin disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • proteasome-associated autoinflammatory syndrome 5

    0.63
  • plasma cell myeloma

    0.60
  • immunodeficiency 121 with autoinflammation

    0.58
  • mantle cell lymphoma

    0.54
  • neoplasm

    0.49
  • amyloidosis

    0.47
  • Omenn syndrome

    0.38
  • AL amyloidosis

    0.37
  • acute lymphoblastic leukemia

    0.36
  • non-Hodgkin lymphoma

    0.35

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proteasome subunit beta type-10

The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.