DMC1

Chr 22

DNA meiotic recombinase 1

Also known as: DMC1H, LIM15, dJ199H16.1

This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 105 with hypopituitarism
0
Active trials
56
Pubs (1 yr)
P/LP submissions
P/LP missense
0.77
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 2.41
OE 0.47 (0.290.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.27Z-score
OE missense 0.74 (0.650.85)
145 obs / 194.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.47 (0.290.77)
00.351.4
Missense OE?0.74 (0.650.85)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 11 / 23.6Missense obs/exp: 145 / 194.8Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DMC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →