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PTCRA

Chr 6p21.1

pre T cell antigen receptor alpha

Aliases:
PTA, PT-ALPHA
MANE:
ENST00000304672.6

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency 126, susceptibility to

    0.49
  • Autoimmunity

    0.37
  • lymphopenia

    0.37
  • neurodegenerative disease

    0.27
  • smoking initiation

    0.17
  • injury

    0.10
  • acute lymphoblastic leukemia

    0.08
  • substance abuse

    0.03
  • attention deficit-hyperactivity disorder

    0.03
  • central nervous system cancer

    0.02

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

Protein function (UniProt)

Pre T-cell antigen receptor alpha

Component of the pre-T-cell receptor complex (composed of PTCRA, TCRB and the CD3 complex) that has a crucial role in early T-cell development, particularly alpha-beta T cell differentiation

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.