Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
GPD1L
Introduction
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]
Structure
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
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
Disease linkage
Mutations in the GPD1L gene are associated with the Brugada syndrome[2] and sudden infant death syndrome.[3]
References
References
- ↑ 1.0 1.1 1.2 Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H (1995). “Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1”. DNA Res. 2 (1): 37–43. doi:10.1093/dnares/2.1.37. PMID 7788527.
- ↑ 2.0 2.1 London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr (November 2007). “Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Decreases Cardiac Na+ Current and Causes Inherited Arrhythmias”. Circulation. 116 (20): 2260–8. doi:10.1161/CIRCULATIONAHA.107.703330. PMC 3150966. PMID 17967977.
- ↑ Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ (November 2007). “Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome”. Circulation. 116 (20): 2253–9. doi:10.1161/CIRCULATIONAHA.107.704627. PMC 3332545. PMID 17967976.