Macrophage scavenger receptor types I and II, also known as Macrophage acetylated LDL receptor I and II, Scavenger receptor class A member 1, CD24, MSR1, and SCARA1, is a single-pass type II membrane protein that contains one collagen-like domain and one SRCR domain. Macrophages are distributed in all peripheral tissues and play a critical role in the first line of the innate immune defenses against bacterial infection by phagocytosis of bacterial pathogens through the macrophage scavenger receptor 1 (MSR1). MSR1/SCARA1 is one of the membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low-density lipoproteins (LDL). MSR1/SCARA1 is also involved in chronic inflammation which is a risk factor for prostate cancer. MSR1 1 gene was identified as a candidate susceptibility gene for hereditary prostate cancer and as a risk factor for sporadic prostate cancer.
MTAP is an enzyme essential for the salvage pathway for both adenine and methionine synthesis. MTAP catalyzes the cleavage of 5’-methylthioadenosine into adenine and 5-methylthio-D-ribose-1-phosphate. Adenine is then used to generate AMP whereas 5-methylthio-D-ribose-1-phosphate is converted into methionine. MTAP is expressed in all normal cells and tissues, although frequently lost in different human tumors including pancreatic adenocarcinoma, neuroendocrine tumors, non-small cell lung carcinoma and breast carcinoma, thereby implicating its potential function as a tumor suppressor.
Cofactor:Copper A.,disease:Defects in MT-CO2 are a cause of cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]; also called mitochondrial complex IV deficiency. COX deficiency is a clinically heterogeneous disorder. The clinical features are ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood.,disease:Defects in MT-CO2 are associated with tumor formation.,Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.,similarity:Belongs to the cytochrome c oxidase subunit 2 family.
MTF2, also named as Metal-response element-binding transcription factor 2, is a 593 amino acid protein. It exists several isoforms and the range of the molecular weight of isoforms are about 55-60 kDa and 29 kDa. MTF2 contains 2 PHD-type zinc fingers and belongs to the Polycomblike family. MTF2 acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity and regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation.
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene.
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants.
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. TFAM (Transcription Factor A, Mitochondrial) is a Protein Coding gene. Diseases associated with TFAM include Mitochondrial Dna Depletion Syndrome 15, Hepatocerebral Type and Skin Carcinoma In Situ. Among its related pathways are Mitochondrial Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include poly(A) RNA binding and chromatin binding.
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