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LYRM7

Chr 5q23.3-q31.1

LYR motif containing 7

Aliases:
FLJ20796, MZM1L
MANE:
ENST00000379380.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Inherited white matter disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorder with complex III deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Mitochondrial disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Possible mitochondrial disorder - nuclear genes

    BIALLELIC, autosomal or pseudoautosomal
  • White matter disorders and cerebral calcification - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Paediatric or syndromic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Isolated CoQ-cytochrome C reductase deficiency

    0.79
  • mitochondrial complex III deficiency

    0.55
  • mitochondrial disease

    0.37
  • inborn mitochondrial metabolism disorder

    0.37
  • mitochondrial complex III deficiency nuclear type 1

    0.34
  • Varicose veins

    0.30
  • asthma

    0.29
  • Abnormality of the skeletal system

    0.29
  • chronic rhinosinusitis

    0.24
  • diabetic ketoacidosis

    0.21

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

Protein function (UniProt)

Complex III assembly factor LYRM7

Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane

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.