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Human Disease

iminoglycinuria

Term ID
DOID:0112265
Synonyms
Definition
A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. https://pubmed.ncbi.nlm.nih.gov/19033659/
References
Ontology
Human Disease   ( DOID:0112265 )
Relationships
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Genes Involved
Zebrafish Models