ELP1

elongator acetyltransferase complex subunit 1

Ensembl:: ENSG00000070061
UniProt:: O95163
OMIM:: 603722
Synonyms:: DYS, IKAP, IKBKAP, IKI3, TOT1

Cilia effects upon perturbation of ELP1

Phenotypes

Mouse phenotype:: preweaning lethality, complete penetrance

Ciliopathy associations

Medulloblastoma

Subcellular localization

cilia associated gene

Functional category

Ciliary assembly/disassembly

Function

Mutations in the ELP1 gene cause Medulloblastoma (PMID: 32296180).

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.