Details for Gene TMEM67

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

Found any issues with the data on this page? Report this entry.