AFMID (Arylformamidase) Gene
Kynurenine Formamidase, Involved in Tryptophan Catabolism
Gene Information Card
| Symbol | AFMID |
|---|---|
| Full Name | Arylformamidase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 125061 ncbi.nlm.nih.gov/gene/125061 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q63HM1 |
| OMIM ID | 619246 |
| HGNC ID | 25956 |
| Aliases | KF, FKF, kynurenine formamidase |
Description
The AFMID gene encodes arylformamidase, an enzyme that catalyzes the conversion of N-formylkynurenine to kynurenine in the tryptophan catabolic pathway (kynurenine pathway). This enzyme is involved in the biosynthesis of NAD+ and plays a role in immune regulation and neuroactive metabolite production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered tryptophan metabolism via AFMID dysregulation may affect immune evasion and tumor growth. | COSMIC; literature |
| Neurodegenerative disorders | Imbalance in kynurenine pathway metabolites (e.g., quinolinic acid) linked to excitotoxicity. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 8.1 | Low |
| Brain | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.5 | Hepatocellular carcinoma cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| SH-SY5Y | 3.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function |
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Reduced enzymatic activity in kynurenine pathway; may affect NAD+ synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004061 - arylformamidase activity | • GO:0005737 - cytoplasm |
| • GO:0019448 - kynurenine metabolic process | • GO:0034354 - NAD+ biosynthetic process |
Pathways
• Kynurenine pathway (tryptophan degradation)
• NAD+ biosynthesis
Protein Summary
Arylformamidase (UniProt Q63HM1) is a 305-amino acid cytoplasmic enzyme that hydrolyzes N-formylkynurenine to kynurenine and formate. It is a key regulator of the kynurenine pathway, influencing tryptophan metabolism, immune tolerance, and neuroactive metabolite production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AFMID Knockout HEK293 Cell Line | EDJ-KQ8718 | Human | 125061 | Details Get a Quote |
| AFMID Knockout A-549 Cell Line | EDJ-KQ34944 | Human | 125061 | Details Get a Quote |
| AFMID Knockout HCT 116 Cell Line | EDJ-KQ34945 | Human | 125061 | Details Get a Quote |
| AFMID Knockout HeLa Cell Line | EDJ-KQ34946 | Human | 125061 | Details Get a Quote |
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