Large neutral amino acid transporter deficiency

Type

Disease
External link(s)
- IEMbase
Gene
- SLC7A5 / solute carrier family 7 member 5
  16q24.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Large neutral amino acids transporter small subunit 5
Disease group(s)
- 1.11 Disorders of amino acid transport