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Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase Activation Protein, Theta Isoform OKDB#: 3141
 Symbols: YWHAQ Species: human
 Synonyms: 1C5, HS1,14-3-3 PROTEIN, T-CELL|14-3-3-THETA|14-3-3-TAU|HS1  Locus: 2p25.1 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease.
General function Intracellular signaling cascade
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages Primordial
Comment Arraztoa JA, et al 2005 reported the identification of genes expressed in primate primordial oocytes.
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: June 21, 2006, 10:43 a.m. by: alex   email:
home page:
last update: June 27, 2006, 3:54 p.m. by: hsueh    email:



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