Harmonizome 3.0

premature ovarian failure, 1B

Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called `POF1` and `POF2` have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]

DNA replication and sister chromatid cohesion 1

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

MAU2 sister chromatid cohesion factor

Enables cohesin loader activity. Involved in maintenance of mitotic sister chromatid cohesion. Located in chromatin and nuclear body. Part of Scc2-Scc4 cohesin loading complex. [provided by Alliance of Genome Resources, Mar 2025]

establishment of sister chromatid cohesion N-acetyltransferase 1

Enables identical protein binding activity; peptide-lysine-N-acetyltransferase activity; and zinc ion binding activity. Involved in peptidyl-lysine acetylation; post-translational protein acetylation; and regulation of DNA replication. Located in chromatin. [provided by Alliance of Genome Resources, Mar 2025]

establishment of sister chromatid cohesion N-acetyltransferase 2

This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]

Hematocrit/hemoglobin quantitative trait locus 1

Hematocrit/hemoglobin quantitative trait locus 3

Hematocrit/hemoglobin quantitative trait locus 2

body mass index quantitative trait locus 8

bone mineral density quantiative trait locus 8

Prostate cancer aggressiveness quantitative trait locus on chromosome 19

stature quantitative trait locus 8

stature quantitative trait locus 4

stature quantitative trait locus 5

stature quantitative trait locus 2

stature quantitative trait locus 3

stature quantitative trait locus 6

stature quantitative trait locus 7

Muscle strength quantitative trait locus 1

Smoking as a quantitative trait locus 2

Bone size quantitative trait locus 3

bone mineral density quantiative trait locus 7

Smoking as a quantitative trait locus 1

gene expression, variation in, quantitative trait locus

gene expression, variation in, quantitative trait locus