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tubby


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A small family of proteins associated with regulation of fat deposition. Mutation in the homologous mouse gene leads to progressive retinal degeneration, deafness, and maturity-onset obesity. Tubby (561 aa and 506 aa isoforms) is a transcription factor that translocates to the nucleus in response to phosphoinositide hydrolysis and shares some common features with scramblases. Tubby-like genes (TULPs) have been found in plants, vertebrates, and invertebrates. Tubby-like protein 1 (TULP1, 489 aa) is a photoreceptor-specific protein that, when mutated, may cause retinitis pigmentosa. TULP2 (520 aa) and TULP3 (442 aa) have different tissue distributions.

Subjects: Medicine and Health.


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