HAUS3

Chr 4

HAUS augmin like complex subunit 3

Also known as: C4orf15, IT1, dgt3

NCBI Gene: 79441 ENSG00000214367 UniProt: Q68CZ6

The protein contributes to mitotic spindle assembly, maintenance of centrosome integrity, and completion of cytokinesis as part of the HAUS augmin-like complex. Mutations cause autosomal recessive primary microcephaly with seizures, intellectual disability, and developmental delay. This gene is not highly constrained against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429