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NRROS

Chr 3q29

negative regulator of reactive oxygen species

Aliases:
UNQ3030, ELLP3030, MGC50789, GARPL1
MANE:
ENST00000328557.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Intracerebral calcification disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • seizures, early-onset, with neurodegeneration and brain calcifications

    0.74
  • asthma

    0.45
  • allergic rhinitis

    0.39
  • Eczematoid dermatitis

    0.38
  • respiratory system disorder

    0.34
  • allergic disease

    0.32
  • atopic asthma

    0.28
  • chronic rhinosinusitis

    0.27
  • obesity disorder

    0.27
  • drug allergy

    0.27

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

Protein function (UniProt)

Transforming growth factor beta activator LRRC33

Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF-beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated from one microglial cell to neighboring microglia, suggesting the existence of localized and selective activation of TGF-beta-1 by LRRC33/NRROS (By similarity). Indirectly plays a role in Toll-like receptor (TLR) signaling: ability to inhibit TLR-mediated NF-kappa-B activation and cytokine production is probably a consequence of its role in TGF-beta-1 signaling (PubMed:23545260)

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.