|Details:|| There are three enolase genes in humans identified as ENO1, ENO2, and ENO3 that generate three homodimeric isoforms of functional enzyme. The proteins encoded by these three genes are referred to as α-enolase (ENO1 gene product), β-enolase (ENO3 gene product), and γ-enolase (ENO2 gene product). Expression of the ENO1 gene is ubiquitous, expression of the ENO2 gene is restricted to nervous tissues, and expression of the ENO3 gene predominates in muscle tissues. The ENO1 gene is located on chromosome 1p36.23 and is composed of 13 exons that generate three alternatively spliced mRNAs. Two of the ENO1 generated mRNAs encode the functional 434 amino acid α-enolase protein. One of the alternatively spliced ENO1 mRNAs encodes a 341 amino acid protein identified as c-myc promoter binding protein-1 (MBP-1). The MBP-1 protein localizes to the nucleus where it functions as a tumor suppressor by acting as a transcriptional repressor of the MYC gene. The ENO2 gene is located on chromosome 12p13.31 and is composed of 12 exons encoding a protein of 434 amino acids. The ENO3 gene is located on chromosome 17p13.2 and is composed of 14 exons that generate three alternatively spliced mRNAs encoding two distinct proteins of 434 amino acids (isoform 1) and 391 amino acids (isoform 2). Mutations in the ENO3 gene are associated with glycogen storage disease type 13.
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