Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript va

Matrin 3 (MATR 3) is an internal nuclear matrix protein that may play a role in transcription or may interact with other nuclear matrix proteins to form the internal fibrogranular network. In association with the SFPQ-NONO heteromer MATR 3 may play a role in nuclear retention of defective RNAs. MATR3 forms part of complex consisting of SFPQ, NONO and MATR3. The protein contains 1 matrin type zinc finger and 2 RRM (RNA recognition motif) domains. Two transcript variants encoding the same prote

MIP1 alpha and MIP1 beta were originally co-purified from medium conditioned by an LPS-stimulated murine macrophage cell line. Human MIP1 beta refers to the products of several independently cloned cDNAs, including Act2, PAT 744, hH400, G26, HIMAP, HC21, and MAD 5a. The predicted protein products of these cDNAs represent variants that are between 94% - 98% identical and these proteins are all approximately 75% homologous to murine MIP1 beta. MIP1 beta also shares approximately 70% amino acid

Modulation of the chromatin structure plays an important role in the regulation of transcription in eukaryotes. The nucleosome, made up of four core histone proteins (H2A, H2B, H3 and H4), is the primary building block of chromatin. The N-terminal tail of core histones undergoes different posttranslational modifications including acetylation, phosphorylation and methylation. These modifications occur in response to cell signal stimuli and have a direct effect on gene expression. In most spec

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a mem

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades type IV collagen, the major structural component of basement mem