title: The genomic organization of a human creatine transporter (CRTR) gene located in Xq28.
abstract: During the course of a large-scale sequencing project in Xq28, a human creatine transporter (CRTR) gene was discovered. The gene is located approximately 36 kb centromeric to ALD. The gene contains 13 exons and spans about 8.5 kb of genomic DNA. Since the creatine transporter has a prominent function in muscular physiology, it is a candidate gene for Barth syndrome and infantile cardiomyopathy mapped to Xq28.
authors.affiliation: Institut für Molekulare Biotechnologie, Genomanalyse, Beutenbergstrasse 11, Jena, 07745, Germany.
authors.forename: N
authors.initials: N
authors.lastname: Sandoval
authors.forename: D
authors.initials: D
authors.lastname: Bauer
authors.forename: V
authors.initials: V
authors.lastname: Brenner
authors.forename: J F
authors.initials: JF
authors.lastname: Coy
authors.forename: B
authors.initials: B
authors.lastname: Drescher
authors.forename: P
authors.initials: P
authors.lastname: Kioschis
authors.forename: B
authors.initials: B
authors.lastname: Korn
authors.forename: G
authors.initials: G
authors.lastname: Nyakatura
authors.forename: A
authors.initials: A
authors.lastname: Poustka
authors.forename: K
authors.initials: K
authors.lastname: Reichwald
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: M
authors.initials: M
authors.lastname: Platzer
mesh_terms: D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics; D002352:Carrier Proteins / Q000096:biosynthesis / Q000235:genetics*; D002503:Centromere; D002874:Chromosome Mapping; D015226:Dinucleoside Phosphates; D018900:Dinucleotide Repeats; D005091:Exons; D006801:Humans; D007438:Introns; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D009468:Neuromuscular Diseases / Q000235:genetics; D009838:Oligodeoxyribonucleotides; D016385:TATA Box; D014960:X Chromosome
chemical_list: D002352:Carrier Proteins; D015226:Dinucleoside Phosphates; D026901:Membrane Transport Proteins; D009838:Oligodeoxyribonucleotides; C080679:creatine transporter; C015772:CpG dinucleotide