Supriya Ghosh (Editor)

GPD1L

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Symbol
  
GPD1L

Entrez
  
23171

OMIM
  
611778

Alt. symbols
  
KIAA0089

HUGO
  
28956

RefSeq
  
NM_015141

GPD1L is a human gene. The protein encoded by this gene contains a glycerol-3-phosphate dehydrogenase (NAD+) motif and shares 72% sequence identity with GPD1.

Contents

Structure

GPD1L contains the following domains:

  • N-terminal – NAD+ consensus binding site
  • a site homologous to the cardiac sodium channel SCN5A
  • C-terminal lysine-206 residue
  • Tissue distribution

    Northern blot analysis detected a single GPD1L transcript in all tissues examined except liver. Highest expression was in heart and skeletal muscle.

    Disease linkage

    Mutations in the GPD1L gene are associated with the Brugada syndrome and sudden infant death syndrome.

    References

    GPD1L Wikipedia