HAUS6

Chr 9

HAUS augmin like complex subunit 6

Also known as: Dgt6, FAM29A

NCBI Gene: 54801 ENSG00000147874 UniProt: Q7Z4H7 OMIM: 613433

The protein is a subunit of the HAUS augmin-like complex that promotes microtubule nucleation from the spindle and contributes to mitotic spindle assembly, centrosome integrity, and cytokinesis completion. Mutations cause microcephalic primordial dwarfism, which follows autosomal recessive inheritance and presents with severe growth restriction and microcephaly from birth. This gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.96

LOEUF

Mechanism· predicted