DISEASES

Disease-gene associations mined from literature

Literature associating ELP1 and hereditary sensory and autonomic neuropathy type 2A

ELP1 [ENSP00000363779]

Elongator complex protein 1; Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation . The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs . Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha- tubulin acetylation (By similarity). May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) . ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576,; Belongs to the ELP1/IKA1 family.

Synonyms:  ELP1,  ELP1p,  hELP1,  F5H2T0,  H0YDF3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM