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tomosyn-2 supports motor performance by regulation of transmitter release willingness to sustain synaptic strength during high-frequency transmission, which makes this gene a candidate for involvement in neuromuscular disorders.
Data indicate that glucose induces phosphorylation, ubiquitination, and degradation of tomosyn-2.
these findings suggest that tomosyn-2 is a key negative regulator of insulin (show INS ELISA Kits) secretion.
A homozygous nonsynonymous mutation in STXBP5L (c.3127G>A, p.Val1043Ile [CCDS43137.1]) was implicated in an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit.
In skin aging rs322458, was in linkage disequilibrium (LD) with intronic single nucleotide polymorphisms of the STXBP5L gene, which is expressed in the skin.
May play a role in vesicle trafficking and exocytosis (Potential).
insulin level locus 1
, lethal(2) giant larvae protein homolog 4
, syntaxin-binding protein 5-like
, tomosyn 2