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TRAPPC10

Chr 21q22.3

trafficking protein particle complex subunit 10

Aliases:
EHOC-1, TRS130
MANE:
ENST00000291574.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with microcephaly, short stature, and speech delay

    0.56
  • neurodegenerative disease

    0.44
  • autosomal recessive primary microcephaly

    0.38
  • Intellectual disability

    0.26
  • ocular hypotension

    0.14
  • Crohn disease

    0.11
  • idiopathic generalized epilepsy

    0.10
  • atrial septal defect

    0.07
  • Meckel syndrome

    0.07
  • Heterotaxia

    0.07

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

Protein function (UniProt)

Trafficking protein particle complex subunit 10

Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether

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.