DISEASES

Disease-gene associations mined from literature

Literature on HJURP

HJURP [ENSP00000414109]

Holliday junction recognition protein; Centromeric protein that plays a central role in the incorporation and maintenance of histone H3-like variant CENPA at centromeres. Acts as a specific chaperone for CENPA and is required for the incorporation of newly synthesized CENPA molecules into nucleosomes at replicated centromeres. Prevents CENPA-H4 tetramerization and prevents premature DNA binding by the CENPA-H4 tetramer. Directly binds Holliday junctions.

Synonyms:  HJURP,  C9JWC4,  F8WCV1,  H7C0I6,  H7C3V8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM