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.


Timing of appearance of the difference in the Hominin Lineage as a defined date or a lineage separation event. The point in time associated with lineage separation events may change in the future as the scientific community agrees upon better time estimates. Lineage separation events are defined in 2017 as:

  • the Last Common Ancestor (LCA) of humans and old world monkeys was 25,000 - 30,000 thousand (25 - 30 million) years ago
  • the Last Common Ancestor (LCA) of humans and chimpanzees was 6,000 - 8,000 thousand (6 - 8 million) years ago
  • the emergence of the genus Homo was 2,000 thousand (2 million) years ago
  • the Last Common Ancestor (LCA) of humans and neanderthals was 500 thousand years ago
  • the common ancestor of modern humans was 100 - 300 thousand years ago

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Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Type of Human-Specific Changes
Expression Pattern Change


  1. Comparative expression analysis of the phosphocreatine circuit in extant primates: Implications for human brain evolution., Pfefferle, Adam D., Warner Lisa R., Wang Catrina W., Nielsen William J., Babbitt Courtney C., Fedrigo Olivier, and Wray Gregory A. , J Hum Evol, 2011 Feb, Volume 60, Issue 2, p.205-12, (2011)
  2. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype., Anselm, I A., Anselm I M., Alkuraya F S., Salomons G S., Jakobs C, Fulton A B., Mazumdar M, Rivkin M, Frye R, T Poussaint Young, et al. , J Inherit Metab Dis, 2006 Feb, Volume 29, Issue 1, p.214-9, (2006)