Entity Details

Primary name SLC6A17
Entity type gene
Source Source Link

Details

PrimaryID388662
RefseqGeneNG_051945
SymbolSLC6A17
Namesolute carrier family 6 member 17
Chromosome1
Location1p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2004-01-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS6A17_HUMAN

GO terms

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GOName
GO:0005887 integral component of plasma membrane
GO:0006836 neurotransmitter transport
GO:0007420 brain development
GO:0008021 synaptic vesicle
GO:0015293 symporter activity
GO:0015804 neutral amino acid transport
GO:0015816 glycine transport
GO:0015820 leucine transport
GO:0015824 proline transport
GO:0030285 integral component of synaptic vesicle membrane
GO:0031224 intrinsic component of membrane
GO:0032328 alanine transport
GO:0035725 sodium ion transmembrane transport
GO:0042995 cell projection
GO:0098794 postsynapse
GO:0098978 glutamatergic synapse
GO:0098982 GABA-ergic synapse
GO:0150104 transport across blood-brain barrier

Diseases

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Disease IDSourceNameDescription
616269 OMIMMental retardation, autosomal recessive 48 (MRT48)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT48 patients show moderate to severe intellectual disability and additional features including progressive tremor, speech impairment, and sometimes behavioral problems. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
SLC6A17BNIP3BioGRID, IntAct32296183 details