SLC6A8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8)
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Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8) mediates transportation of creatine across the plasma membrain. The expression of this gene is higher in the human brain than it is in other primates, which may provide more energy for use by the human brain from the phosphocreatine circuit. Deficiiency of SLC6A8 leads to creatine transporter deficiency syndromes, characterized by intellectual disability, language impairment, epilepsy, and microcephaly. This has led to the hypothesis that increased SLC6A8 may have played a role in the increased human brain size.
Comparative expression analysis of the phosphocreatine circuit in extant primates: Implications for human brain evolution., , J Hum Evol, 2011 Feb, Volume 60, Issue 2, p.205-12, (2011)
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype., , J Inherit Metab Dis, 2006 Feb, Volume 29, Issue 1, p.214-9, (2006)