TACC3

Chr 4

transforming acidic coiled-coil containing protein 3

Also known as: ERIC-1, ERIC1, Tacc4, maskin

NCBI Gene: 10460 ENSG00000013810 UniProt: Q9Y6A5 OMIM: 605303

The protein functions in mitotic spindle stabilization and microtubule-dependent coupling of the nucleus and centrosome, playing a critical role in centrosome-mediated interkinetic nuclear migration of neural progenitors. Mutations cause autosomal recessive microcephaly, seizures, and developmental delay, typically presenting in infancy with severe intellectual disability and cortical malformations. The gene shows relatively low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

Mechanism· predicted