Disease-gene associations mined from literature

Literature associating EIF5A and syndromic X-linked intellectual disability Snyder type

EIF5A [ENSP00000336702]

Eukaryotic translation initiation factor 5A-1; mRNA-binding protein involved in translation elongation. Has an important function at the level of mRNA turnover, probably acting downstream of decapping. Involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity. With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis. Regulates also TNF- alpha-mediated apoptosis. Mediates effects of polyamines on neuronal process extension and survival. May play an important role in brain development and function, and in skeletal muscle stem cell differentiation. Also described as a cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts.

Synonyms:  EIF5A,  EIF5Ap,  hEIF5A,  I3L397,  I3L504 ...

Linkouts:  STRING  Pharos  UniProt  OMIM