NCBI Description
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]
Uniprot Description
SLC6A8: Required for the uptake of creatine in muscles and brain. Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS). XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter, SLC family; Motility/polarity/chemotaxis; Membrane protein, multi-pass; Transporter; Membrane protein, integral
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: integral to membrane; integral to plasma membrane; plasma membrane
Molecular Function: creatine transporter activity; creatine:sodium symporter activity; neurotransmitter:sodium symporter activity
Biological Process: creatine metabolic process; creatine transport; muscle contraction; neurotransmitter transport; sodium ion transport; transport
Disease: Cerebral Creatine Deficiency Syndrome 1
Product Notes
The SLC6A8 slc6a8 (Catalog #
AAA427584) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. The Creatine transporter 1 / SLC6A8 Immunizing Peptide reacts with Human, Mouse, Rat, Dog, Pig, Cow and may cross-react with other species as described in the data sheet. The amino acid sequence is listed below: ASLANLTCDQ LADRR.
It is sometimes possible for the material contained within the vial of
"Creatine transporter 1 / SLC6A8, Blocking Peptide" to become dispersed throughout the inside of
the vial, particularly around the seal of said vial, during shipment and storage. We always
suggest centrifuging these vials
to consolidate all of the liquid away from the lid and to the bottom of the vial prior to
opening. Please be advised that
certain products may require dry ice for shipping and that, if this is the case, an
additional dry ice fee may also be
required.
Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are
absolutely not suitable for use in any
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product from AAA Biotech, you
are explicitly certifying that said products will be properly tested and used in line with
industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
Disclaimer
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responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any
aspect of this datasheet at
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