Article
A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.
The Journal of clinical endocrinology and metabolism - 1 Apr 2006
Fang Peng, Kofoed Eric M, Little Brian M, Wang Xiangdong, Ross Richard J M, Frank Stuart J, Hwa Vivian, Rosenfeld Ron G
Abstract excerpt
CONTEXT: A natural missense mutation in the signal transducer and activator of transcription (STAT) 5b gene was recently identified in association with a female patient presenting with severe growth failure and immune dysfunction. The mutation results in an alanine to proline substitution at residue 630 (A630P) in the src-homology-2 domain, a region essential for docking of STATs to phospho-tyrosines on activated...
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