MORC1

Chr 3

MORC family CW-type zinc finger 1

Also known as: CT33, MORC, ZCW6

NCBI Gene: 27136 ENSG00000114487 UniProt: Q86VD1 OMIM: 603205

The protein is required for spermatogenesis and is essential for de novo DNA methylation and silencing of transposable elements in male embryonic germ cells. Mutations in MORC1 cause male infertility with no other apparent clinical phenotype. The gene shows extremely high constraint against loss-of-function variants (pLI near 1.0), suggesting that mutations may have significant biological impact despite the testis-specific expression pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.51

LOEUF

Mechanism· predicted