DISEASES

Disease-gene associations mined from literature

Literature associating IGHMBP2 and amyotrophic lateral sclerosis type 4

IGHMBP2 [ENSP00000255078]

DNA-binding protein SMUBP-2; 5' to 3' helicase that unwinds RNA and DNA duplices in an ATP-dependent reaction. Acts as a transcription regulator. Required for the transcriptional activation of the flounder liver-type antifreeze protein gene. Exhibits strong binding specificity to the enhancer element B of the flounder antifreeze protein gene intron. Binds to the insulin II gene RIPE3B enhancer region. May be involved in translation (By similarity). DNA-binding protein specific to 5'-phosphorylated single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region. Preferentially binds to the 5'-GGGCT-3' motif. Interacts with tRNA-Tyr. Stimulates the transcription of the human neurotropic virus JCV.

Synonyms:  IGHMBP2,  IGHMBP2p,  hIGHMBP2,  F5GX64,  F5H5K3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM