GPD1L
From Wikipedia, the free encyclopedia
| glycerol-3-phosphate dehydrogenase 1-like | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | GPD1L | ||||||
| Alt. symbols | KIAA0089 | ||||||
| NCBI gene | 23171 | ||||||
| HGNC | 28956 | ||||||
| OMIM | 611778 | ||||||
| RefSeq | NM_015141 | ||||||
| UniProt | Q8N335 | ||||||
| Other data | |||||||
| EC number | 1.1.1.8 | ||||||
| Locus | Chr. 3 p22.3 | ||||||
| |||||||
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]
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]
