Syntaxin Binding Protein 5 Like (STXBP5L). What does this gene do?

This gene codes for a protein expressed in the central and peripheral nervous system. This means that it influences processes involving the brain and nerves. Specifically, it plays a role in the transport and release of brain chemicals known as neurotransmitters. Neurotransmitters work as signalling molecules that help transmit messages between nerve cells.

A genome-wide association study (GWAS) was performed on French women in order to identify factors that affect severity of skin aging. Four indicators measuring this severity included: global photoaging, lentigines (brown marks on the skin), wrinkles and sagging. They were all investigated separately and adjusted according to age, smoking habits, sun exposure and other factors. One of the SNPs that were significant was STXBP5L. It is expressed in the skin and correlated with premature ageing of the skin when exposed to UV rays, wrinkling and sagging score.

Studies in animals showed that this gene may also negatively regulate the secretion of insulin.

The G allele is the risk allele and is associated with aging in the study above.

Further reading:

Skin aging (GWAS):

Skin aging (GWAS):

SNARE complex (of which STXBP5L is involved in) and insulin: