DISEASES

Disease-gene associations mined from literature

Literature associating TTLL8 and congenital nystagmus 1

TTLL8 [ENSP00000392252]

Protein monoglycylase TTLL8; Monoglycylase which modifies both tubulin and non-tubulin proteins, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By similarity).

Synonyms:  TTLL8,  TTLL8p,  hTTLL8,  A0A1C7CYW9,  A6PVC2 ...

Linkouts:  STRING  Pharos  UniProt