SLC7A7

Gene name: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
OMIM ID: 603593
Chromosome location: 14q11.2

Mutations

Disease/Phenotype	Lysinuric protein intolerance
Reference transcript	NM_001126106.2
DNA Change	c.726G>A
A.A. Change	p.Trp242X
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Mykkanen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacin M, Aula P.Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet. 2000 Feb 12;9(3):431-8.

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Disease/Phenotype	Fanconi renotubular syndrome 1
Reference transcript	NM_001126106.2
DNA Change	c.726G>A
A.A. Change	p.Trp242X
Exon/Intron	exon 5
Mutation Type	substitution
Reference	Benninga MA, Lilien M, de Koning TJ, Duran M, Versteegh FG, Goldschmeding R, Poll-The BT.Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. J Inherit Metab Dis. 2007 Jun;30(3):402-3.

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