Gene Symbol | SLC1A4 |
Entrez Gene ID | 6509 |
Full Name | solute carrier family 1 member 4 |
Synonyms | ASCT1,SATT,SPATCCM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]. |
Disorder MIM: | |
Disorder Html: | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) |