Lysinuric protein intolerance
OMIM:222700Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | SLC7A7 |
|---|---|
| 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. |