GENE NAME | LZTR1 |
CHROMOSOME | 22 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000099949 |
UNIPROT ACCESSION NUMBER | None |
GO MOLECULAR FUNCTION | ['small GTPase binding', 'protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
3 combinations linked to LZTR1 | OLI1538; OLI1542; OLI1327 |
3 variants linked to LZTR1 | LZTR1:c.1311G>A, ; LZTR1:c.905C>T, p.Ala302Val; LZTR1:c.2023G>A, p.Gly675Arg |
2 diseases linked to LZTR1 | NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy; 46,XY disorder of sex development |