Gene: HSD17B6

Alternate names for this Gene: HSE|RODH|SDR9C6

Gene Summary: The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: hydroxysteroid 17-beta dehydrogenase 6

Type of Gene: protein-coding

Gene: PRIM1

Alternate names for this Gene: p49

Gene Summary: The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: DNA primase subunit 1

Type of Gene: protein-coding

rs2277339 in HSD17B6;PRIM1 gene and Age at menarche PMID 29773799 2018 Elucidating the genetic architecture of reproductive ageing in the Japanese population.

rs2277339 in HSD17B6;PRIM1 gene and Age at menopause PMID 29773799 2018 Elucidating the genetic architecture of reproductive ageing in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

rs2277339 in HSD17B6;PRIM1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs2277339 in HSD17B6;PRIM1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2277339 in HSD17B6;PRIM1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs2277339 in HSD17B6;PRIM1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2277339 in HSD17B6;PRIM1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2277339 in HSD17B6;PRIM1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2277339 in HSD17B6;PRIM1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2277339 in HSD17B6;PRIM1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.