DMC1: Meiotic Recombination Protein Essential for Homologous Chromosome Pairing
Key regulator of meiotic recombination and fertility
Gene Information Card
| Symbol | DMC1 |
|---|---|
| Full Name | DNA meiotic recombinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 11144 ncbi.nlm.nih.gov/gene/11144 |
| Ensembl ID | ENSG00000100297 |
| UniProt ID | Q14565 |
| OMIM ID | 602721 |
| HGNC ID | 2927 |
| Aliases | LIM15, DMC1H, hDMC1 |
Description
DMC1 (DNA meiotic recombinase 1) encodes a protein essential for meiotic homologous recombination. It is a meiosis-specific recombinase that promotes strand exchange between homologous chromosomes, facilitating accurate chromosome segregation during gametogenesis. DMC1 is structurally and functionally related to RAD51 but is specifically required for meiotic recombination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with azoospermia | Loss-of-function mutations impair meiotic recombination, leading to meiotic arrest and absence of sperm | ClinVar, OMIM |
| Premature ovarian failure | Defective DMC1 disrupts oocyte meiotic progression, causing ovarian insufficiency | ClinVar, OMIM |
| Spermatogenic failure | Homozygous or compound heterozygous mutations cause meiotic arrest and non-obstructive azoospermia | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 2.1 | Low |
| Fallopian tube | 0.3 | Not detected |
| Endometrium | 0.1 | Not detected |
| Prostate | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Meiotic cells |
| Oocytes | Moderate | Meiotic cells |
| HEK293 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.106G>A (p.Gly36Arg) | Missense | Rare | Loss of function; disrupts ATP binding and recombinase activity |
| c.643C>T (p.Arg215*) | Nonsense | Rare | Loss of function; truncation leads to non-functional protein |
| c.791G>A (p.Arg264Gln) | Missense | Rare | Loss of function; impairs DNA binding and strand exchange |
Mutation functional classification
Loss of Function (LOF)
Most reported DMC1 mutations are loss-of-function, leading to meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described; inheritance is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Homologous recombination (KEGG: hsa03440)
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
DMC1 is a 340-amino acid protein (37.5 kDa) that belongs to the RecA/Rad51 recombinase family. It forms helical filaments on single-stranded DNA and catalyzes homologous pairing and strand exchange during meiosis. DMC1 interacts with RAD51, BRCA2, and other meiotic factors. Its expression is restricted to germ cells undergoing meiosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMC1 Knockout HEK293 Cell Line | EDJ-KQ7303 | Human | 11144 | Details Get a Quote |
| DMC1 Knockout A-549 Cell Line | EDJ-KQ32351 | Human | 11144 | Details Get a Quote |
| DMC1 Knockout HeLa Cell Line | EDJ-KQ32352 | Human | 11144 | Details Get a Quote |
| DMC1 Knockout HCT 116 Cell Line | EDJ-KQ72528 | Human | 11144 | Details Get a Quote |
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