Description: Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA. RefSeq Summary (NM_005629): The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. Transcript (Including UTRs) Position: hg19 chrX:152,953,752-152,962,048 Size: 8,297 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chrX:152,954,030-152,960,669 Size: 6,640 Coding Exon Count: 13
ID:SC6A8_HUMAN DESCRIPTION: RecName: Full=Sodium- and chloride-dependent creatine transporter 1; Short=CT1; Short=Creatine transporter 1; AltName: Full=Solute carrier family 6 member 8; FUNCTION: Required for the uptake of creatine in muscles and brain. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate. DISEASE: Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC6A8";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): SLC6A8 CDC HuGE Published Literature: SLC6A8
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00209 - Sodium:neurotransmitter symporter family
ModBase Predicted Comparative 3D Structure on P48029
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.