GPD1L

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glycerol-3-phosphate dehydrogenase 1-like
Identifiers
Symbol GPD1L
Alt. symbols KIAA0089
Entrez 23171
HUGO 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]

Structure[edit]

GPD1L contains the following domains:[2]

Tissue distribution[edit]

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[edit]

Mutations in the GPD1L gene are associated with the Brugada syndrome[2] and sudden infant death syndrome.[3]

See also[edit]

References[edit]

  1. ^ a b c 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. ^ a b 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. 
  3. ^ 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. 

External links[edit]