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 |