Details for Gene LZTR1

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

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