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ACP5

Chr 19p13.2

acid phosphatase 5, tartrate resistant

Aliases:
TRAP, HPAP, TRAcP
MANE:
ENST00000648477.1

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intracerebral calcification disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

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

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Spondyloenchondrodysplasia with immune dysregulation

    0.82
  • hereditary disease

    0.47
  • type 1 interferonopathy

    0.46
  • Alzheimer disease

    0.33
  • Parkinson disease

    0.28
  • lysosomal storage disease

    0.28
  • neurodegenerative disease

    0.28
  • multiple sclerosis

    0.28
  • thrombophilia

    0.20
  • Abnormality of the skeletal system

    0.13

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

Protein function (UniProt)

Tartrate-resistant acid phosphatase type 5

Involved in osteopontin/bone sialoprotein dephosphorylation. Its expression seems to increase in certain pathological states such as Gaucher and Hodgkin diseases, the hairy cell, the B-cell, and the T-cell leukemias

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.