DISEASES

Disease-gene associations mined from literature

Literature associating SKIV2L and congenital diarrhea 5 with tufting enteropathy

SKIV2L [ENSP00000364543]

Helicase SKI2W; Helicase; has ATPase activity. Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C); Belongs to the helicase family. SKI2 subfamily.

Synonyms:  SKIV2L,  SKIV2Lp,  hSKIV2L,  A0A1U9X8J1,  B4E0B4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM