MTHFSD
Methenyltetrahydrofolate Synthetase Domain-Containing Protein
Gene Information Card
| Symbol | MTHFSD |
|---|---|
| Full Name | Methenyltetrahydrofolate Synthetase Domain-Containing |
| Gene Type | protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 64779 ncbi.nlm.nih.gov/gene/64779 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9H2B4 |
| OMIM ID | 616541 |
| HGNC ID | 25618 |
| Aliases | FLJ20628, MTHFS domain-containing |
Description
MTHFSD encodes a protein containing a methenyltetrahydrofolate synthetase domain, which is involved in folate metabolism. The protein catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a key step in one-carbon metabolism. This gene is expressed in various tissues and may play a role in cellular proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neural tube defects | Altered folate metabolism due to MTHFSD variants may disrupt one-carbon transfer, affecting neural tube closure. | Limited evidence from case-control studies (PMID: 25644625) |
| Colorectal cancer | MTHFSD overexpression may promote tumor growth via enhanced folate-dependent nucleotide synthesis. | Observational studies (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 5.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| HepG2 | 14.8 | Hepatocellular carcinoma cells |
| A549 | 7.5 | Lung adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.005% (gnomAD) | Predicted benign by SIFT |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar.
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)
| • methenyltetrahydrofolate cyclohydrolase activity | • one-carbon metabolic process |
| • cytoplasm |
Pathways
• Folate metabolism
• One-carbon pool by folate
Protein Summary
The MTHFSD protein (UniProt Q9H2B4) is a 34 kDa enzyme localized to the cytoplasm. It contains a methenyltetrahydrofolate synthetase domain that catalyzes the ATP-dependent conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate. This reaction is essential for maintaining intracellular folate pools and supporting nucleotide biosynthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTHFSD Knockout HEK293 Cell Line | EDJ-KQ14330 | Human | 64779 | Details Get a Quote |
| MTHFSD Knockout HCT 116 Cell Line | EDJ-KQ43197 | Human | 64779 | Details Get a Quote |
| MTHFSD Knockout A-549 Cell Line | EDJ-KQ44433 | Human | 64779 | Details Get a Quote |
| MTHFSD Knockout HeLa Cell Line | EDJ-KQ44435 | Human | 64779 | Details Get a Quote |
