The bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE/Mnk), or GLCNE, regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. GLCNE is required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells. It is upregulated after PKC-dependent phosphorylation and is most abundantly expressed in liver ａ

UFD1L is a member of the UFD1 family of proteins and is a component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. This complex, also containing UFD1L, VCP and NPLOC4, binds ubiquitinated proteins and is required for the export of misfolded proteins from the ER to the cytoplasm for disposal. The NPLOC4-UFD1L-VCP complex also regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. UFD1L gen

CECR5 is widely expressed. There are 2 known isoforms produced by alternative splicing.

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