PDXDC1
Pyridoxal-Dependent Decarboxylase Domain Containing 1
Gene Information Card
| Symbol | PDXDC1 |
|---|---|
| Full Name | Pyridoxal-Dependent Decarboxylase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 23042 ncbi.nlm.nih.gov/gene/23042 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q6P996 |
| OMIM ID | 617420 |
| HGNC ID | 28995 |
| Aliases | FLJ11273, dJ1181N3.1 |
Description
PDXDC1 encodes a protein containing a pyridoxal-dependent decarboxylase domain, which is involved in amino acid metabolism. The gene is located on chromosome 16p13.3 and is expressed in various tissues. Its precise biological function and disease associations are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | Not available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | Medium |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | Unknown functional impact |
| c.567G>A | Synonymous | <0.05% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • pyridoxal phosphate binding | • decarboxylase activity |
| • cytoplasm |
Pathways
• Vitamin B6 metabolism
Protein Summary
The PDXDC1 protein contains a pyridoxal-dependent decarboxylase domain, suggesting a role in decarboxylation reactions. Its exact substrate and cellular function remain to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDXDC1 Knockout HEK293 Cell Line | EDJ-KQ7796 | Human | 23042 | Details Get a Quote |
| PDXDC1 Knockout A-549 Cell Line | EDJ-KQ33298 | Human | 23042 | Details Get a Quote |
| PDXDC1 Knockout HCT 116 Cell Line | EDJ-KQ33299 | Human | 23042 | Details Get a Quote |
| PDXDC1 Knockout HeLa Cell Line | EDJ-KQ33300 | Human | 23042 | Details Get a Quote |
