Recombinant Human Glycerol-3-phosphate dehydrogenase 1-like protein (GPD1L)

Uniprot Id

Q8N335

Target Species

Human

Target Name

GPD1L

Target Full Name

Glycerol-3-phosphate dehydrogenase 1-like protein

Target Function

Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L.

Target Involvement

Brugada syndrome 2 (BRGDA2); Sudden infant death syndrome (SIDS)

Target Subcellular Location

Cytoplasm. Note=Localized to the region of the plasma membrane.

Target Protein Families

NAD-dependent glycerol-3-phosphate dehydrogenase family

Target Tissue Specificity

Most highly expressed in heart tissue, with lower levels in the skeletal muscle, kidney, lung and other organs.

Target Synonyms

GPD1L; KIAA0089; Glycerol-3-phosphate dehydrogenase 1-like protein; GPD1-L; EC 1.1.1.8

Target Background

The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS).