EFR3A is a plasma membrane protein that contains 821 amino acids and belongs to the EFR3 family. EFR3A is alternatively spliced creating three isoforms and is encoded by a gene that maps to human chromosome 8. Human chromosome 8 consists of nearly 146 million base pairs, encodes over 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8.

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