Description
Product Characteristics:
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.
Synonyms: EFR 3A, EFR3 homolog A S. cerevisiae, EFR3 homolog A, KIAA0143, Protein EFR3 homolog A, Protein EFR3 like,
Target Information: This gene encodes a membrane protein. Studies with orthologous gene in mouse show that it is differentially expressed in the auditory brainstem neurons of mice with hearing deficit, compared to mice with normal hearing ability, suggesting a role for this gene in hearing. [provided by RefSeq, Jan 2011]