TAMM41
Mitochondrial CDP-DAG Synthase Involved in Cardiolipin Biosynthesis
Gene Information Card
| Symbol | TAMM41 |
|---|---|
| Full Name | TAMM41, mitochondrial CDP-DAG synthase |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.2 |
| NCBI Gene ID | 132612 ncbi.nlm.nih.gov/gene/132612 |
| Ensembl ID | ENSG00000163904 |
| UniProt ID | Q9BQ39 |
| OMIM ID | 615868 |
| HGNC ID | 25461 |
| Aliases | C3orf31, MCPH15, TAMM |
Description
TAMM41 encodes a mitochondrial protein that functions as a CDP-diacylglycerol (CDP-DAG) synthase, catalyzing the conversion of phosphatidic acid to CDP-DAG, a key intermediate in cardiolipin biosynthesis. This enzyme is essential for mitochondrial membrane integrity and function. Mutations in TAMM41 are associated with autosomal recessive primary microcephaly (MCPH15) and mitochondrial dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 15 (MCPH15) | Loss-of-function mutations impair cardiolipin synthesis, disrupting mitochondrial dynamics and neurogenesis | OMIM #615868; PMID: 27018473 |
| Mitochondrial complex V deficiency | Impaired cardiolipin biosynthesis affects ATP synthase assembly and function | PMID: 27018473 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.9 | Medium |
| Brain | 6.2 | Medium |
| Heart | 5.1 | Medium |
| Liver | 3.8 | Low |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.3 | Moderate expression |
| HeLa | 5.9 | Moderate expression |
| K562 | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.155C>T (p.Pro52Leu) | Missense | Rare | Reduced enzymatic activity; associated with microcephaly |
| c.334G>A (p.Gly112Arg) | Missense | Rare | Impaired CDP-DAG synthase activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro52Leu, p.Gly112Arg) reduce or abolish CDP-DAG synthase activity, leading to cardiolipin deficiency and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; all reported pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • CDP-diacylglycerol synthase activity (GO:0004602) | • mitochondrion (GO:0005739) |
| • phospholipid biosynthetic process (GO:0008654) | • cardiolipin biosynthetic process (GO:0032049) |
Pathways
• Cardiolipin biosynthesis (Reactome: R-HSA-1483248)
• Glycerophospholipid metabolism (KEGG: hsa00564)
Protein Summary
TAMM41 is a 402-amino acid mitochondrial inner membrane protein that synthesizes CDP-diacylglycerol from phosphatidic acid and CTP. This reaction is the first committed step in cardiolipin biosynthesis, critical for mitochondrial cristae structure, respiratory chain supercomplex formation, and ATP production. The protein contains a conserved CDP-alcohol phosphatidyltransferase domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAMM41 Knockout HEK293 Cell Line | EDJ-KQ9280 | Human | 132001 | Details Get a Quote |
| TAMM41 Knockout HCT 116 Cell Line | EDJ-KQ35891 | Human | 132001 | Details Get a Quote |
| TAMM41 Knockout HeLa Cell Line | EDJ-KQ35892 | Human | 132001 | Details Get a Quote |
| TAMM41 Knockout A-549 Cell Line | EDJ-KQ66794 | Human | 132001 | Details Get a Quote |
