GANC (Glucosidase Alpha, Neutral C)
Neutral alpha-glucosidase C gene
Gene Information Card
| Symbol | GANC |
|---|---|
| Full Name | Glucosidase Alpha, Neutral C |
| Gene Type | protein-coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000124562 |
| UniProt ID | Q8TET4 |
| OMIM ID | 602464 |
| HGNC ID | 4137 |
| Aliases | GANC, neutral alpha-glucosidase C, glucosidase alpha C |
Description
The GANC gene encodes neutral alpha-glucosidase C, an enzyme involved in the hydrolysis of terminal alpha-1,4-linked glucose residues from oligosaccharides and glycogen. It is expressed in various tissues and plays a role in glycogen metabolism. Mutations in GANC are associated with glycogen storage disease type II (Pompe disease) and other metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycogen storage disease type II (Pompe disease) | Deficiency of neutral alpha-glucosidase C leads to accumulation of glycogen in lysosomes, causing muscle weakness and cardiomyopathy. | ClinVar, OMIM |
| Glycogen storage disease type IV | Mutations in GANC may contribute to abnormal glycogen branching and storage. | OMIM |
| Metabolic myopathy | Reduced GANC activity impairs glycogen breakdown, leading to exercise intolerance and muscle damage. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Muscle | 8.3 | Medium |
| Heart | 6.7 | Low |
| Brain | 4.2 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line |
| C2C12 | 9.8 | Myoblast cell line |
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
| HEK293 | 4.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2238G>A (p.Trp746*) | Nonsense | <0.01% | Loss of function; associated with Pompe disease |
| c.2560C>T (p.Arg854Cys) | Missense | 0.02% | Reduced enzyme activity; metabolic myopathy |
| c.3073C>T (p.Arg1025Trp) | Missense | 0.01% | Decreased glucosidase activity; glycogen storage |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing Pompe disease.
Gain of Function (GOF)
Not reported for GANC.
Dominant Negative (DN)
Not reported for GANC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycogen metabolism (Reactome: R-HSA-71387)
• Lysosomal glycogen catabolism (KEGG: hsa00500)
Protein Summary
Neutral alpha-glucosidase C is a 952-amino acid protein localized to lysosomes. It catalyzes the hydrolysis of alpha-1,4-glucosidic bonds in glycogen and oligosaccharides, releasing glucose. The enzyme is critical for glycogen breakdown; deficiency leads to lysosomal glycogen accumulation and Pompe disease. The protein contains a glycosyl hydrolase family 31 domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GANC Knockout HEK293 Cell Line | EDJ-KQ2165 | Human | 2595 | Details Get a Quote |
| GANC Knockout HeLa Cell Line | EDJ-KQ21061 | Human | 2595 | Details Get a Quote |
| GANC Knockout A-549 Cell Line | EDJ-KQ22370 | Human | 2595 | Details Get a Quote |
| GANC Knockout HCT 116 Cell Line | EDJ-KQ22371 | Human | 2595 | Details Get a Quote |
