DISEASES

Disease-gene associations mined from literature

Literature associating SLC6A5 and creatine transporter deficiency

SLC6A5 [ENSP00000434364]

Solute carrier family 6 (neurotransmitter transporter), member 5; Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily.

Synonyms:  SLC6A5,  SLC6A5p,  hSLC6A5,  J3KNC4,  Q9Y345 ...

Linkouts:  STRING  Pharos  UniProt  OMIM