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TBCB

Chr 19q13.12

tubulin folding cofactor B

Aliases:
CG22, CKAPI
MANE:
ENST00000221855.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.55
  • atrial fibrillation

    0.20
  • neurodevelopmental disorder

    0.18
  • lysosomal storage disease

    0.09
  • acute myeloid leukemia

    0.07
  • membranous glomerulonephritis

    0.03
  • neoplasm

    0.02
  • ovarian carcinoma

    0.02
  • Sepsis

    0.02
  • breast cancer

    0.01

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

Protein function (UniProt)

Tubulin-folding cofactor B

Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (PubMed:9265649). Involved in regulation of tubulin heterodimer dissociation. May function as a negative regulator of axonal growth (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.