NFATC1 Gene and Its Associated Neurological Disorders (G4772)

Target Name: NFATC1

NCBI ID: G4772

NFATC1 Gene and Its Associated Neurological Disorders

NFATC1 (N-acyltransferase alpha-1) is a gene that encodes a protein involved in the transfer of amino acids from the cytosol to the endoplasmic reticulum (ER). Mutations in the NFATC1 gene have been linked to various neurological and psychiatric disorders, including Alzheimer's disease, Parkinson's disease, and schizophrenia.

The NFATC1 gene has four splice variants, designated as NFATC1-V1, -V2, -V3, and -V4. The most common variant is NFATC1-V1, which is a wild-type gene that has been studied extensively. The other variants are variants of the gene that have been identified as potential drug targets or biomarkers.

NFATC1-V1 gene

The NFATC1-V1 gene is the most common variant of the NFATC1 gene and is responsible for producing the majority of the protein that is associated with NFATC1. The NFATC1-V1 gene has 19 exons and 18 introns. The protein produced by this gene is a 26 kDa protein that contains a N-acyl transferase domain and a transmembrane domain.

The N-acyl transferase domain is a key component of the protein and is responsible for the transfer of amino acids from the cytosol to the endoplasmic reticulum. This domain is composed of 125 amino acids and is located at the C-terminus of the protein. The transmembrane domain is located at the N-terminus of the protein and is responsible for the protein's localization and stability in the cell membrane.

Studies have shown that mutations in the NFATC1 gene have been associated with various neurological and psychiatric disorders. The most well-studied of these mutations is the missense mutation that is located in the N-acyl transferase domain of the NFATC1 gene. This mutation has been shown to cause a neurodegenerative disorder that is characterized by the progressive loss of brain cells and the development of neurofibrillary tangles.

The missense mutation has been shown to cause a neurodegenerative disorder that is characterized by the progressive loss of brain cells and the development of neurofibrillary tangles. This disorder is known as progressive familial neurodegeneration (PFN) and is a type of hereditary neurodegenerative disorder that is caused by the progressive loss of dopamine-producing neurons in the brain.

Another potential drug target associated with the NFATC1 gene is the exon-inactivating mutation (EIM) that is located in the introns of the NFATC1 gene. This mutation has been shown to cause a neurodevelopmental disorder that is characterized by the progressive loss of language and communication skills.

The EIM mutation has been shown to cause a neurodevelopmental disorder that is characterized by the progressive loss of language and communication skills. This disorder is known as Left-sidedInvalid Spatial Intiation (LSIS) and is a type of neurodevelopmental disorder that is caused by the progressive loss of language and communication skills.

In conclusion, the NFATC1 gene has four splice variants, designated as NFATC1-V1, -V2, -V3, and -V4. The most common variant is NFATC1-V1, which is responsible for producing the majority of the protein that is associated with NFATC1. The N-acyl transferase domain and transmembrane domain are the key components of the protein and are responsible for its localization and stability in the cell membrane. The missense mutation that is located in the N-acyl transferase domain and the exon-inactivating mutation (EIM) that is located in the introns of the NFATC1 gene have been associated with various neurological and psychiatric disorders. Therefore, these mutations are potential drug targets or biomarkers for the NFATC1 gene.

Protein Name: Nuclear Factor Of Activated T Cells 1

Functions: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity)

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