CTBS Gene: Chitobiase, Di-N-Acetyl-Chitobiosyl-Phosphotransferase
A comprehensive biomedical resource on the CTBS gene, including genomic data, expression profiles, disease associations, and functional annotations.
Gene Information Card
| Symbol | CTBS |
|---|---|
| Full Name | Chitobiase, Di-N-Acetyl-Chitobiosyl-Phosphotransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.3 |
| NCBI Gene ID | 1486 ncbi.nlm.nih.gov/gene/1486 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q01459 |
| OMIM ID | 601536 |
| HGNC ID | 2502 |
| Aliases | CTB, chitobiase |
Description
The CTBS gene encodes chitobiase, a lysosomal enzyme involved in the degradation of chitobiose and related oligosaccharides. It catalyzes the hydrolysis of di-N-acetylchitobiose and plays a role in glycoprotein metabolism. Mutations in CTBS are associated with lysosomal storage disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysosomal storage disease | Deficient chitobiase activity leads to accumulation of chitobiose-containing substrates | ClinVar, OMIM |
| Chitotriosidase deficiency | Reduced or absent chitobiase activity due to CTBS mutations | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Placenta | 6.7 | Low |
| Lung | 5.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| A549 | 4.5 | Lung carcinoma cells |
| K562 | 3.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1049G>A (p.Arg350His) | Missense | 0.0012 | Reduced enzyme activity |
| c.1246C>T (p.Arg416Cys) | Missense | 0.0008 | Loss of function |
| c.1480delG | Frameshift | <0.0001 | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish chitobiase activity, leading to substrate accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CTBS.
View complete mutation data：
Gene Ontology (GO)
| • chitinase activity (GO:0004568) | • lysosome (GO:0005764) |
| • carbohydrate metabolic process (GO:0005975) | • chitin catabolic process (GO:0006032) |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycosaminoglycan degradation (KEGG: hsa00531)
Protein Summary
Chitobiase is a lysosomal hydrolase that cleaves di-N-acetylchitobiose and related oligosaccharides. It is synthesized as a precursor and processed to a mature form. The enzyme is involved in the degradation of chitin-derived glycans and is essential for normal lysosomal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTBS Knockout HEK293 Cell Line | EDJ-KQ4380 | Human | 1486 | Details Get a Quote |
| CTBS Knockout A-549 Cell Line | EDJ-KQ26896 | Human | 1486 | Details Get a Quote |
| CTBS Knockout HCT 116 Cell Line | EDJ-KQ26897 | Human | 1486 | Details Get a Quote |
| CTBS Knockout HeLa Cell Line | EDJ-KQ26898 | Human | 1486 | Details Get a Quote |
