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MYZAP

Chr 15q21.3

myocardial zonula adherens protein

Aliases:
MYOZAP, Gup, Gup1, GCOM1
MANE:
ENST00000267853.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Paediatric or syndromic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Dilated and arrhythmogenic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cardiomyopathy, dilated, 2K

    0.66
  • atrial fibrillation

    0.53
  • dilated cardiomyopathy

    0.48
  • cardiac arrhythmia

    0.43
  • atrial flutter

    0.40
  • chronic obstructive pulmonary disease

    0.35
  • DNA methylation

    0.28
  • placental abruption

    0.26
  • psoriatic arthritis

    0.21
  • hereditary disease

    0.19

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

Protein function (UniProt)

Myocardial zonula adherens protein

Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF (By similarity). Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 (By similarity)

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.