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GPD1L
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
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GPD1L is a human gene.[1] The protein encoded by this gene contains a glycerol-3-phosphate dehydrogenase (NAD+) motif and shares 72% sequence identity with GPD1.[1]
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Structure
GPD1L contains the following domains:[2]
- 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.[1]
Disease linkage
Mutations in the GPD1L gene are associated with the Brugada syndrome[2] and sudden infant death syndrome.[3]
See also
References
External links
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