TKT

Chr 3p21.1

transketolase

MANE:: ENST00000462138.6

OMIM: 606781 ↗NCBI: 7086 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TKT · P29401

v62025-08-01

Predicted Aligned Error matrix for TKT — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

97.1/ 100

Very high

623 residues

Confidence breakdown

Very high(≥ 90)97%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

transketolase deficiency
0.68
neurodegenerative disease
0.41
cardiomyopathy
0.38
alcohol drinking
0.26
Alzheimer disease
0.25
urolithiasis
0.25
Parkinson disease
0.24
multiple sclerosis
0.24
lysosomal storage disease
0.24
diverticular disease
0.23

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

Protein function (UniProt)

Discoidin domain-containing receptor 2

Tyrosine kinase involved in the regulation of tissues remodeling (PubMed:30449416). It functions as a cell surface receptor for fibrillar collagen and regulates cell differentiation, remodeling of the extracellular matrix, cell migration and cell proliferation. Required for normal bone development. Regulates osteoblast differentiation and chondrocyte maturation via a signaling pathway that involves MAP kinases and leads to the activation of the transcription factor RUNX2. Regulates remodeling of the extracellular matrix by up-regulation of the collagenases MMP1, MMP2 and MMP13, and thereby facilitates cell migration and tumor cell invasion. Promotes fibroblast migration and proliferation, and thereby contributes to cutaneous wound healing