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This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. While several transcript variants may exist for this gene, the full-length natures of only two have been bi
In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL
AAMP is a 434 amino acid immunoglobulin-like protein that contains 8 WD repeats. Expressed in endothelial cells, cytotrophoblasts and blood vessels, AAMP is thought to have a heparin-sensitive role in cell adhesion and cell migration. AAMP is strongly expressed in poorly differentiated colon adenocarcinoma cells, suggesting a role for AAMP in tumor progression.
Human SUG1 (also known as p45, Rpt6, Cim3 and PSMC5) is a component of the 19S regulatory subunit of the 26S proteosome complex. It is one of the AAA ATPas found in the 19S regulatory complex that is thought to participate in the unfolding of ubiquitinated proteins in an ATP dependent manner. It has also been shown to directly interact with the nucleotide excision repair protein XPB.
Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]