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Gene Symbol |
ALDH3A2 |
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Aliases |
ALDH10, FALDH, SLS |
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Entrez Gene ID |
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Gene Name |
Aldehyde dehydrogenase 3 family member A2 |
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Chromosomal Location |
17p11.2 |
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HGNC ID |
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Summary |
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
Gene |
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Transcript |
ENST00000581518, ENST00000673136, ENST00000580550, ENST00000672465, ENST00000672357, ENST00000584332, ENST00000176643, ENST00000339618, ENST00000579855, ENST00000578614, ENST00000582991, ENST00000671878, ENST00000395575, ENST00000672487, ENST00000472059, ENST00000672567, ENST00000672709, ENST00000571537, ENST00000578696, ENST00000672591, ENST00000571163, ENST00000573947, ENST00000575384, ENST00000573565, ENST00000631291, ENST00000630662, ENST00000626500 |
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Protein |
ENSP00000461916, ENSP00000500380, ENSP00000462964, ENSP00000500517, ENSP00000500092, ENSP00000466814, ENSP00000176643, ENSP00000345774, ENSP00000463637, ENSP00000463128, ENSP00000464153, ENSP00000500516, ENSP00000378942, ENSP00000500740, ENSP00000458397, ENSP00000500777, ENSP00000499877, ENSP00000458942, ENSP00000464453, ENSP00000500558, ENSP00000459977, ENSP00000462933, ENSP00000461235, ENSP00000463924, ENSP00000486085, ENSP00000487353, ENSP00000486283
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Protein Information |
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Protein Name |
Aldehyde dehydrogenase family 3 member A2, aldehyde dehydrogenase 10, fatty aldehyde dehydrogenase, microsomal aldehyde dehydrogenase |
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Function |
Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490). |
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UniProt |
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PDB |
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Pfam |
Pfam Accession |
Pfam ID |
PF00171 |
Aldedh |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000346032 |
P07355 |
P07355 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Endocrine System Diseases |
PCOS |
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Nutritional and Metabolic Diseases |
Sjogren-Larsson Syndrome |
25047030, 19124283, 21872273, 16546179, 17902024, 10854114, 9467812, 15931689, 9254849, 10577908, 8528251, 9204959, 16536828, 9829906, 19965611, 9250352, 25741868, 11408337, 10384396, 23450279, 21968182, 15241804, 10792573, 16837225, 256 |
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References |
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Avila Julio, Gonzalez-Fernandez Rebeca, Rotoli Deborah, Hernandez Jairo, Palumbo Angela |
Departamento de Bioquimica y Biologia Molecular, Laboratorio de Biologia del Desarrollo, Universidad de La Laguna, La Laguna, Spain.| Centro de Investigaciones Biomedicas de Canarias (CIBICAN), Universidad de La Laguna, La Laguna, Spain.| Departamento de Bioquimica y Biologia Molecular, Laboratorio de Biologia del Desarrollo, Universidad de La Laguna, La Laguna, Spain.| Departamento de Bioquimica y Biologia Molecular, Laboratorio de Biologia del Desarrollo, Universidad de La Laguna, La Laguna, Spain.| Institute of Endocrinology and Experimental Oncology (IEOS), CNR-National Research Council, Naples, Italy.| Centro de Asistencia a la Reproduccion Humana de Canarias, La Laguna, Spain.| Centro de Asistencia a la Reproduccion Humana de Canarias, La Laguna, Spain apalumbo@fivap.com apalumbo1960@gmail.com.| Department of Obstetrics and Gynecology, New York University School of Medicine, New York, NY, USA. |
Reprod Sci. 2016 Dec;23(12):1656-1661. doi: 10.1177/1933719116674077. |
Abstract
Ovarian aging is associated with gradual follicular loss by atresia/apoptosis. Increased production of toxic metabolites such as reactive oxygen species (ROS) and reactive nitrogen species as well as external oxidant agents plays an important role in the process of ovarian senescence and in the pathogenesis of ovarian pathologies such as endometriosis and polycystic ovary syndrome (PCOS). This review provides a synthesis of available studies of oxidative stress (OS) in the ovary, focusing on the most recent evidence obtained in mural granulosa-lutein (GL) cells of in vitro fertilization patients. Synthesis of antioxidant enzymes such as peroxiredoxin 4, superoxide dismutase, and catalase and OS damage response proteins such as aldehyde dehydrogenase 3, member A2 decreases with aging in human GL cells, favoring an unbalance in ROS/antioxidants that mediates molecular damage and altered cellular function. The increase in OS in the granulosa cell correlates with diminished expression of follicle-stimulating hormone receptor (FSHR) and a dysregulation of the FSHR signaling pathway and may be implicated in disrupted steroidogenic function and poor response to FSH in women with aging. Women with endometriosis and PCOS have lower antioxidant production capacity that may contribute to abnormal follicular development and infertility. Further investigation of the signaling pathways involved in cellular response to OS could shed light into molecular characterization of these diseases and development of new treatment strategies to improve reproductive potential in these women. |
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