TUBGCP6

Chr 22

tubulin gamma complex component 6

Also known as: GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR

NCBI Gene: 85378 ENSG00000128159 UniProt: Q96RT7

TUBGCP6 encodes a component of the gamma-tubulin ring complex (gTuRC) that mediates microtubule nucleation at the centrosome, which is critical for centrosome duplication and spindle formation. Biallelic mutations cause microcephaly and chorioretinopathy, autosomal recessive, 1, affecting both brain development and retinal structure. This follows autosomal recessive inheritance and has an associated GeneReviews entry for additional clinical guidance.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly and chorioretinopathy, autosomal recessive, 1

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly and chorioretinopathy 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TUBGCP6