| 词条 | GPD1L |
| 释义 |
|Name=glycerol-3-phosphate dehydrogenase 1-like |caption= |image= |width= |HGNCid=28956 |Symbol=GPD1L |AltSymbols= KIAA0089 |EntrezGene=23171 |OMIM=611778 |RefSeq=NM_015141 |UniProt= Q8N335 |PDB= |ECnumber=1.1.1.8 |Chromosome=3 |Arm=p |Band=22.3 |LocusSupplementaryData= }}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] StructureGPD1L contains the following domains:[2]
Tissue distributionNorthern blot analysis detected a single GPD1L transcript in all tissues examined except liver. Highest expression was in heart and skeletal muscle.[1]Disease linkageMutations in the GPD1L gene are associated with the Brugada syndrome[2] and sudden infant death syndrome.[3] See also
References1. ^1 2 {{cite journal |vauthors=Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S, Ishikawa K, Kawarabayasi Y, Kotani H | title = 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 | journal = DNA Res. | volume = 2 | issue = 1 | pages = 37–43 | year = 1995 | pmid = 7788527 | doi = 10.1093/dnares/2.1.37 | url = }} 2. ^1 {{cite journal |vauthors=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)) | title = Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Decreases Cardiac Na+ Current and Causes Inherited Arrhythmias | journal = Circulation | volume = 116 | issue = 20 | pages = 2260–8 |date=November 2007 | pmid = 17967977 | doi = 10.1161/CIRCULATIONAHA.107.703330 | url = | pmc = 3150966 }} 3. ^{{cite journal |vauthors=Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ | title = Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome | journal = Circulation | volume = 116 | issue = 20 | pages = 2253–9 |date=November 2007 | pmid = 17967976 | doi = 10.1161/CIRCULATIONAHA.107.704627 | url = | pmc=3332545}} External links
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