ALLC: Allantoicase Gene
Gene encoding allantoicase, an enzyme involved in urate degradation
Gene Information Card
| Symbol | ALLC |
|---|---|
| Full Name | Allantoicase |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 55821 ncbi.nlm.nih.gov/gene/55821 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8N6M5 |
| OMIM ID | 611718 |
| HGNC ID | 24086 |
| Aliases | allantoicase, allantoinase |
Description
The ALLC gene encodes allantoicase, an enzyme that catalyzes the hydrolysis of allantoate to ureidoglycolate and urea in the urate degradation pathway. This gene is primarily expressed in the kidney and liver, and its activity is involved in purine metabolism. In humans, the urate degradation pathway is largely inactive due to pseudogenization of urate oxidase, but ALLC retains some expression and may have alternative functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Urolithiasis | Altered urate metabolism may contribute to stone formation | Limited evidence; inferred from pathway |
| Gout | Potential role in urate homeostasis | Indirect; based on pathway involvement |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 2.1 | Low |
| Liver | 1.5 | Low |
| Testis | 0.8 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HepG2 | 0.3 | Low expression |
| K-562 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • allantoicase activity | • urate catabolic process |
| • zinc ion binding |
Pathways
• Purine metabolism (KEGG: hsa00230)
• Urate degradation
Protein Summary
Allantoicase is a zinc-dependent metalloenzyme that catalyzes the conversion of allantoate to ureidoglycolate and urea. The protein is predicted to have a TIM barrel fold and is localized to the cytoplasm. In humans, the enzyme has low activity compared to other mammals, and its physiological role may be limited or adapted to alternative functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALLC Knockout HEK293 Cell Line | EDJ-KQ12336 | Human | 55821 | Details Get a Quote |
| ALLC Knockout HeLa Cell Line | EDJ-KQ56639 | Human | 55821 | Details Get a Quote |
| ALLC Knockout A-549 Cell Line | EDJ-KQ65144 | Human | 55821 | Details Get a Quote |
| ALLC Knockout HCT 116 Cell Line | EDJ-KQ73581 | Human | 55821 | Details Get a Quote |
