CTSB

Chr 8p23.1

cathepsin B

MANE:: ENST00000353047.11

OMIM: 116810 ↗NCBI: 1508 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CTSB · P07858

v62025-08-01

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

Mean pLDDT

92.1/ 100

Very high

339 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)10%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Epidermolysis bullosa and congenital skin fragility
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COVID-19 research
Unknown
Pancreatitis

Disease associations (Open Targets)

Alzheimer disease
0.49
Parkinson disease
0.45
keratolytic winter erythema
0.40
neurodegenerative disease
0.31
leprosy
0.29
type 1 diabetes mellitus
0.28
alcohol drinking
0.28
hepatitis B virus infection
0.27
squalene synthase deficiency
0.27
diabetes mellitus
0.26

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

Protein function (UniProt)

Cathepsin B

Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (PubMed:12220505). Cleaves matrix extracellular phosphoglycoprotein MEPE (PubMed:12220505). Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (By similarity). Has also been implicated in tumor invasion and metastasis (PubMed:3972105)