Creatine Transporter (CRT)

SLC6A8; CT1; CRTR; Sodium And Chloride Dependent Creatine Transporter 1; Solute Carrier Family 6 Member 8

SPN	S399
HGNC	11055
MGI	2147834
PubMed	19879361
RGD	619711
UniProt	P48029
Wiki	SLC6A8

The creatine-phosphocreatine shuttle has important functions in the temporal and spatial maintenance of the energy supply to skeletal and cardiac muscle. Muscle cells do not synthesize creatine, but take it up via a special sodium-dependent transporter, the creatine transporter (SLC6A8). In mouse skin, they found high amounts of cytosolic brain CK (CKB) coexpressed with lower amounts of ubiquitous mitochondrial CK (CKMT1B), both mainly localized in suprabasal layers of the dermis, different cell types of hair follicles, sebaceous glands, and the subcutaneous panniculus carnosus muscle. Except for sebaceous glands, these cells also expressed CRT. Ckb and Crt were upregulated about 3-fold immediately after wounding of mouse skin, whereas the amount of Ckmt1b increased 10 to 15 days after wounding.

Reference

"Cloning, pharmacological characterization, and genomic localization of the human creatine transporter."
Recept. Channels 2:165-174(1994) [PubMed] [Europe PMC] [Abstract]

"The cloning and expression of a human creatine transporter."
Biochem. Biophys. Res. Commun. 204:419-427(1994) [PubMed] [Europe PMC] [Abstract]

"The genomic organization of a human creatine transporter (CRTR) gene located in Xq28."
Genomics 35:383-385(1996) [PubMed] [Europe PMC] [Abstract]

"Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family."
Gene 159:287-288(1995) [PubMed] [Europe PMC] [Abstract]

"Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene."
Gene 418:53-59(2008) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28."
Am. J. Hum. Genet. 70:1349-1356(2002) [PubMed] [Europe PMC] [Abstract]

"X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8."
Ann. Neurol. 52:227-231(2002) [PubMed] [Europe PMC] [Abstract]

"High prevalence of SLC6A8 deficiency in X-linked mental retardation."
Am. J. Hum. Genet. 75:97-105(2004) [PubMed] [Europe PMC] [Abstract]

"High frequency of creatine deficiency syndromes in patients with unexplained mental retardation."
Neurology 67:1713-1714(2006) [PubMed] [Europe PMC] [Abstract]

"Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing."
J. Med. Genet. 50:802-811(2013) [PubMed] [Europe PMC] [Abstract]

"Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes."
Mol. Genet. Metab. 109:260-268(2013) [PubMed] [Europe PMC] [Abstract]