DISEASES

Disease-gene associations mined from literature

Literature associating GPD1L and long QT syndrome 2

GPD1L [ENSP00000282541]

Glycerol-3-phosphate dehydrogenase 1-like protein; 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.

Synonyms:  GPD1L,  GPD1Lp,  hGPD1L,  B3KWN2,  C9JFA7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM