Alpha-Synuclein (alpha-Syn), also known as NACP or SNCA, exists as at least two structural isoforms: one is helix-rich, membrane-bound form that both the N- and C-terminal regions of alpha-synuclein are tightly associated with membranes and the other is disordered, cytosolic form. Synuclein is found predominantly in the presynaptic termini, in both free or membrane-bound forms. SNCA is extensively localized in nucleus of neurons. It has been shown that alpha-Synuclein was highly expressed in the mitochondria in olfactory bulb, hippocampus, striatum, and thalamus, where the cytosolic alpha-Synuclein was also rich. Normally the unstructured soluble type of alpha-synuclein can aggregate to form insoluble fibrils in pathological conditions characterized by Lewy bodies, such as Parkinson's disease, dementia with Lewy bodies and multiple system atrophy. SNCA abnormality and mitochondrial deficiency are two major changes in the brain of patients with Parkinson's disease (PD). Besides, alpha-synuclein is an abundant component of Lewy bodies in sporadic Parkinson's disease and diffuse Lewy body disease.
Alpha-Synuclein (SNCA) is a member of the Synuclein family. SNCA is expressed principally in brain but also expressed in low concentrations in all tissues except liver. SNCA interacts with UCHL1, Phospholipase D and histones. SNCA can include beta- and gamma-synuclein. In addition, SNCA is an important regulatory component of vesicular transport in neuronal cells. It has been suggested that SNCA is related to the pathogenesis of Parkinson's Disease and neurodegenerative disorders. Defects in SNCA will lead to Dementia Lewy Body (DLB).
NHP2-Like Protein 1 (NHP2L1) is a member of the ribosomal protein L7Ae family. NHP2L1 proteinis limited to the nucleus, primarily focused in the dense fibrillar component of the nucleolus. NHP2L1 has been shown to interact with RAD17and PRPF31. The protein undergoes a conformational change upon RNA-binding. NHP2L1 binds to the 5-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly, prior to step I of splicing catalysis.
ACAT2 is a cytoplasmic enzyme which belongs to the thiolase family. ACAT2 takes part in lipid metabolism, lipoprotein assembly, catalyzing cholesterol esterification in mammalian cells. It is responsible for the synthesis of cholesteryl esters which are part of lipoproteins containing apoB. ACAT2 deficiency contributes to severe mental retardation and hypotonus.
This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants.
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