DISEASES

Disease-gene associations mined from literature

Literature associating SAP30L and isolated ectopia lentis

SAP30L [ENSP00000297109]

HCV non-structural protein 4A-transactivated protein 2; Isoform 1: Functions as transcription repressor, probably via its interaction with histone deacetylase complexes. Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus. Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA. Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import; Belongs to the SAP30 family.

Synonyms:  SAP30L,  SAP30Lp,  hSAP30L,  Q9HAJ7,  NS4ATP2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM