DISEASES

Disease-gene associations mined from literature

Literature associating ELL and nemaline myopathy 3

ELL [ENSP00000262809]

Eleven-nineteen lysine-rich leukemia protein; Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription. ELL also plays an early role before its assembly into in the SEC complex by stabilizing RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilize the pre-initiation complex and early elongation; Belongs to the ELL/occludin family.

Synonyms:  ELL,  ELL-001,  ELL-002,  ELL-005,  ELL-007 ...

Linkouts:  STRING  Pharos  UniProt  OMIM