HJURP

Chr 2

Holliday junction recognition protein

Also known as: FAKTS, URLC9, hFLEG1

NCBI Gene: 55355 ENSG00000123485 UniProt: Q8NCD3 OMIM: 612667

The protein acts as a specific chaperone for the centromeric histone variant CENPA, playing a central role in incorporating and maintaining CENPA at centromeres during chromosome segregation. Mutations cause autosomal recessive primary microcephaly with growth retardation and intellectual disability. This gene is extremely intolerant to loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Enables histone binding activity and identical protein binding activity. Involved in CENP-A containing chromatin assembly; chromosome segregation; and regulation of protein-containing complex assembly. Located in kinetochore and nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.79

LOEUF

Mechanism· predicted