Details for Gene TUBA8

GENE NAME TUBA8
CHROMOSOME 22
ENSEMBL ID ENSG00000183785
ENTREZ ID 51807
UNIPROT ACCESSION NUMBER Q9NY65
GO MOLECULAR FUNCTION structural constituent of cytoskeleton; GTP binding; protein binding; GTPase activity
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-597592; R-HSA-5617833; R-HSA-195258; R-HSA-2467813; hsa05016; hsa05014; R-HSA-9675108; R-HSA-422475; R-HSA-112316; R-HSA-1640170; R-HSA-392499; R-HSA-9609736; R-HSA-8856688; R-HSA-68877; R-HSA-168256; R-HSA-112314; R-HSA-390466; R-HSA-6811436; hsa05010; hsa05020; R-HSA-948021; R-HSA-2555396; hsa04145; hsa04210; hsa05012; R-HSA-6811442; R-HSA-9648025; R-HSA-157858; R-HSA-2500257; R-HSA-3371497; R-HSA-391251; R-HSA-2262752; hsa05022; R-HSA-1852241; R-HSA-437239; R-HSA-190828; R-HSA-983231; R-HSA-162582; hsa04540; R-HSA-983189; R-HSA-389958; R-HSA-8953897; R-HSA-1266738; R-HSA-9612973; R-HSA-446203; R-HSA-1632852; R-HSA-69275; hsa05132; R-HSA-190861; R-HSA-199991; R-HSA-2132295; R-HSA-5663205; R-HSA-199977; R-HSA-389960; R-HSA-389977; R-HSA-1643685; R-HSA-1280218; R-HSA-438064; R-HSA-68882; R-HSA-442755; R-HSA-9646399; R-HSA-190872; R-HSA-6807878; R-HSA-5663220; R-HSA-9668328; R-HSA-1445148; R-HSA-373760; R-HSA-5653656; R-HSA-2995410; R-HSA-109582; R-HSA-112315; R-HSA-453274; R-HSA-9619483; R-HSA-380320; R-HSA-9609690; R-HSA-9609646; hsa05130; R-HSA-9663891; R-HSA-8955332; R-HSA-194315; R-HSA-6811434; R-HSA-5626467; R-HSA-68886; hsa04530; R-HSA-190840; R-HSA-69278; R-HSA-8852276
1 combination linked to TUBA8 OLI1052
1 variant linked to TUBA8 TUBA8:c.967G>A, p.Val323Met
1 disease linked to TUBA8 Primary ovarian failure
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