FAHD1: Fumarylacetoacetate Hydrolase Domain Containing 1
A mitochondrial enzyme involved in the tricarboxylic acid cycle and oxaloacetate metabolism.
Gene Information Card
| Symbol | FAHD1 |
|---|---|
| Full Name | Fumarylacetoacetate Hydrolase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 81889 ncbi.nlm.nih.gov/gene/81889 |
| Ensembl ID | ENSG00000167994 |
| UniProt ID | Q6P587 |
| OMIM ID | 615908 |
| HGNC ID | 28480 |
| Aliases | FLJ10853, MGC138499, MGC138500 |
Description
FAHD1 encodes a mitochondrial protein that functions as an oxaloacetate decarboxylase, catalyzing the conversion of oxaloacetate to pyruvate and carbon dioxide. This enzyme is involved in the tricarboxylic acid (TCA) cycle and regulates mitochondrial metabolism. The protein belongs to the fumarylacetoacetate hydrolase family and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial dysfunction (general) | Impaired oxaloacetate decarboxylase activity may disrupt TCA cycle flux and energy metabolism. | Inferred from functional studies (UniProt, NCBI). |
| Cancer (potential) | Altered FAHD1 expression may affect cellular proliferation and metabolic reprogramming. | COSMIC mutation data; limited direct evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| HepG2 | 13.2 | High expression |
| K562 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are predicted to reduce oxaloacetate decarboxylase activity, impairing mitochondrial metabolism.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • oxaloacetate decarboxylase activity (GO:0008948) | • mitochondrion (GO:0005739) |
| • tricarboxylic acid cycle (GO:0006099) | • metal ion binding (GO:0046872) |
Pathways
• TCA cycle (KEGG:00020)
• Pyruvate metabolism (KEGG:00620)
Protein Summary
FAHD1 is a 314-amino acid mitochondrial protein that decarboxylates oxaloacetate to pyruvate, thereby modulating TCA cycle intermediates. It is expressed in multiple tissues, with highest levels in testis and liver. The enzyme requires divalent metal ions for activity and is structurally related to fumarylacetoacetate hydrolase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAHD1 Knockout HEK293 Cell Line | EDJ-KQ51778 | Human | 81889 | Details Get a Quote |
| FAHD1 Knockout HeLa Cell Line | EDJ-KQ57428 | Human | 81889 | Details Get a Quote |
| FAHD1 Knockout A-549 Cell Line | EDJ-KQ65933 | Human | 81889 | Details Get a Quote |
| FAHD1 Knockout HCT 116 Cell Line | EDJ-KQ74359 | Human | 81889 | Details Get a Quote |
