| Mitochondrial related genes |
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ATP5B (ATP synthase subunit beta, mitochondrial) |
12q13.3 |
Encodes the β subunit of mitochondrial ATP synthase that catalyzes ATP synthesis |
PPR53179A |
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PPARGC1A (PPARG coactivator 1 alpha) |
12q13.3 |
It is a transcriptional coactivator that regulates genes involved in energy metabolism |
PPR46783A |
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PPARGC1B (PPARG coactivator 1 beta) |
5q32 |
It is a transcriptional coactivator that regulates genes involved in energy metabolism |
PPR51585A |
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PRKAA2 (Protein kinase AMP-activated catalytic subunit alpha 2) |
1p32.2 |
It is a catalytic subunit of AMPK that is activated in response to cellular metabolic stresses and regulates fatty acid and cholesterol biosynthesis |
PPR51543A |
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MNF2 (Mitofusin 2) |
1p36.22 |
A mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network |
PPR46301A |
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OPA1 (Mitochondrial dynamin like gtpase) |
3q29 |
An inner mitochondrial membrane protein that helps regulate mitochondrial stability and energy output |
PPR44137A |
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HIF1 (Hypoxia inducible factor 1) |
14q23.2 |
It is a transcriptional activator of many genes associated with adaptation to low oxygen pressure |
PPR44480A |
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CHRM1 (Cholinergic receptor muscarinic 1) |
11q12.3 |
It is a member of the metabotropic G protein-coupled receptor (GPCR) family and its loss leads to a decrease in mitochondrial respiration (oxygen consumption) |
PPR52433A |
|
TFAM (Transcription factor A, mitochondria 1) |
10q21.1 |
A mitochondrial transcription factor involved in mitochondrial DNA replication and repair |
PPR06806A |
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NFE2L2 (Nuclear factor, erythroid 2 like 2) |
2q31.2 |
A transcription factor that regulates genes containing antioxidant response elements |
PPR46611A |
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NRF1 (Nuclear respiratory factor 1) |
7q32.2 |
It is a transcription factor that regulates nuclear genes required for respiration, heme biosynthesis and mitochondrial DNA transcription and replication |
PPR45094A |
| Ovarian and folliculogenesis related genes |
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DPPA3 (Developmental pluripotency associated 3) |
12p13.31 |
It is a maternally-acting protein involved in the preimplantation stage and plays a role in transcriptional repression, cell division and maintenance of cell pluripotency |
PPR52161A |
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FIGLA (Folliculogenesis specific bhlh transcription factor) |
2p13.3 |
It is a transcription factor that regulates a large number of oocyte-specific genes. Mutations in this gene cause premature ovarian failure |
PPR75855A |
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DAZL (Deleted in azoospermia like) |
3p24.3 |
The DAZ gene family encodes potential RNA-binding proteins expressed in prenatal and postnatal germ cells of male and female |
PPR68946B |
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ZP1 (Zona pellucida glycoprotein 1) |
11q12.2 |
It is a structural component of the zona pellucida and mutations in the gene cause oocyte maturation defects and infertility |
PPR45105A |
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ZP2 (Zona pellucida glycoprotein 2) |
16p12.3–p12.2 |
It is a structural component of the zona pellucida and functions in the secondary attachment and penetration of spermatozoa that react with the acrosome |
PPR45106A |
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POU5F1 (Pou class 5 homeobox 1) |
6p21.33 |
A transcription factor that plays an important role in embryonic development and pluripotency |
PPR59727A |
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NPM2 (Nucleoplasmin 2) |
8p21.3 |
Nucleoplasmin (NPM) chaperone families [NPM1, NPM2, NPM3] have diverse functions in cellular processes such as chromatin remodeling, genome stability, ribosome biogenesis, DNA duplication and transcriptional regulation |
PPR59674A |
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H1FOO (H1 histone family member O oocyte specific) |
3q22.1 |
An oocyte-specific H1 histone involved in chromatin network remodeling |
PPR66654A |
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DNMT1 (DNA methyltransferase 1) |
19p13.2 |
It is an enzyme that binds methyl groups to cytosine nucleotides of genomic DNA and is involved in the repression of gene expression |
PPR43733A |
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DNMT3A (DNA methyltransferase 3 alpha) |
2p23.3 |
It encodes a DNA methyl transferase thought to function in de novo methylation. The protein is localized to the cytoplasm and nucleus and its expression is developmentally regulated |
PPR50580A |
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DNMT3B (DNA methyltransferase 3 beta) |
20q11.21 |
It is a DNA methyl transferase that functions in de novo methylation |
PPR59417B |
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KAT2A (Lysine acetyltransferase 2A) |
17q21.2 |
It is a histone acetyltransferase (HAT) that functions as a transcriptional activator |
PPR50679A |
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HDAC3 (Histone deacetylase 3) |
5q31.3 |
It has histone deacetylase activity and represses transcription |
PPR46455B |
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SIRT7 (Sirtuin 7) |
17q25.3 |
Class III is a member of the histone deacetylase (HDAC) family |
PPR47517A |
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MBD2 (Methyl-cpg binding domain protein 2) |
18q21.2 |
It functions as a demethylase in the methylation process |
PPR43331B |
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KMT2A (Lysine methyltransferase 2A) |
11q23.3 |
It is a transcriptional coactivator involved in regulating gene expression |
PPR51308A |
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SMARCA1 (SWI/SNF related, matrix associated, actin dependent regülatör of chromatin, subfamily a, member 1) |
Xq25–q26.1 |
It is a member of the SWI/SNF protein family and is an ATPase that contributes to the chromatin remodeling complex |
PPR49160A |
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ESR1 (Estrogen receptor 1) |
6q25.1– q25.2 |
The receptor is a ligand-activated transcription factor consisting of several regions important for hormone binding, DNA binding and transcription activation |
PPR44939B |
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GTF2H1 (General transcription factor II H subunit 1) |
11p15.1 |
It is a transcription factor subunit that in many cases regulates transactivation |
PPR47902A |
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MAP2K1 (Mitogen-activated protein kinase kinase 1) |
15q22.31 |
It is a member of the protein kinase family and is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development |
PPR43465A |
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NCOA1 (Nuclear receptor coactivator 1) |
2p23.3 |
It is a transcriptional coactivator for steroid and nuclear hormone receptors |
PPM04655A |
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TBP (TATA-box binding protein) |
6q27 |
A transcription factor that binds to the TATA sequence, which controls the initiation and rate of transcription |
PPR47412A |
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MED15 (Mediator complex subunit 15) |
22q11.21 |
A transcriptional coactivator involved in RNA polymerase II transcription |
PPR43587A |
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POLR2C (RNA polymerase II subunit C) |
16q21 |
It is the third largest subunit of RNA polymerase II |
PPR62584A |
