GPD1L
Description
The GPD1L (glycerol-3-phosphate dehydrogenase 1 like) is a protein-coding gene located on chromosome 3.
GPD1L is a human gene that encodes a protein with a glycerol-3-phosphate dehydrogenase (NAD+) motif. This protein shares 72% sequence identity with GPD1. GPD1L contains three domains: an N-terminal NAD+ consensus binding site, a site homologous to the cardiac sodium channel SCN5A, and a C-terminal lysine-206 residue. GPD1L is expressed in all tissues except liver, with the highest expression in heart and skeletal muscle. Mutations in the GPD1L gene are associated with Brugada syndrome and sudden infant death syndrome.
GPD1L plays a critical role in regulating cardiac sodium current. Reduced enzymatic activity leads to an accumulation of glycerol-3-phosphate, activating the DPD1L-dependent SCN5A phosphorylation pathway, which ultimately decreases sodium current. Additionally, GPD1L can influence sodium current by altering NAD(H) balance.
GPD1L is also known as GPD1-L.
