Details for Gene LOXHD1

GENE NAME LOXHD1
CHROMOSOME 18
ENSEMBL ID None
ENTREZ ID ENSG00000167210
UNIPROT ACCESSION NUMBER Q8IVV2
GO MOLECULAR FUNCTION
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
3 combinations linked to LOXHD1 OLI1677; OLI1672; OLI1690
3 variants linked to LOXHD1 LOXHD1:c.1843C>T, p.Arg615Trp; LOXHD1:c.740C>A, p.Ala247Glu; LOXHD1:c.2353G>A, p.Ala785Thr
1 disease linked to LOXHD1 Non-Syndromic genetic keratoconus

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