LEO1 Chromosome 15

LEO1 component of Paf1/RNA polymerase II complex

1 variant 1 Health Risk

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What This Gene Does

LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]

Gene Info

Gene Group

Paf1/RNA polymerase II complex

Locus Type

gene with protein product

Location

15q21.2

Ensembl

ENSG00000166477

Associated Conditions (1)

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Key Variants

RS2542537853

Likely pathogenic

Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2542537853	Health Risk	Likely pathogenic	Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation