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GenoLensGenoLens

MIP

Chr 12q13.3

major intrinsic protein of lens fiber

Aliases:
MP26, LIM1, AQP0
MANE:
ENST00000652304.1

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bilateral congenital or childhood onset cataracts

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Total congenital cataract

    0.79
  • Cataract with Y-shaped suture opacities

    0.79
  • cataract

    0.71
  • early-onset non-syndromic cataract

    0.69
  • lens disorder

    0.58
  • Abnormal lens morphology

    0.58
  • Developmental cataract

    0.56
  • eye adnexa disorder

    0.55
  • hereditary disease

    0.42
  • Posterior polar cataract

    0.40

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

Protein function (UniProt)

Mitochondrial intermediate peptidase

Cleaves proteins, imported into the mitochondrion, to their mature size

Curated MONDO disease pages that list MIP among their top associated genes.

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.