GENE NAME | TMEM67 |
CHROMOSOME | 8 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000164953 |
UNIPROT ACCESSION NUMBER | Q5HYA8 |
GO MOLECULAR FUNCTION | ['filamin binding', 'unfolded protein binding', 'protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-1852241; R-HSA-5617833; R-HSA-5620912 |
1 combination linked to TMEM67 | OLI1371 |
1 variant linked to TMEM67 | TMEM67:c.(406+1_407-1)_(*1_?)del, |
1 disease linked to TMEM67 | Meckel syndrome |