TUBGCP6

Chr 22q13.33

tubulin gamma complex component 6

Aliases:: GCP6, KIAA1669, DJ402G11.6
MANE:: ENST00000248846.10

OMIM: 610053 ↗NCBI: 85378 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

TUBGCP6 · Q96RT7

v62025-08-01

Predicted Aligned Error matrix for TUBGCP6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.6/ 100

Low

1,819 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)33%
Low(50–70)17%
Very low(< 50)39%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

microcephaly and chorioretinopathy 1
0.79
hereditary disease
0.42
Retinal dystrophy
0.41
Primary microcephaly
0.37
autosomal recessive primary microcephaly
0.37
neurodegenerative disease
0.27
alcohol drinking
0.24
optic atrophy
0.14
Intellectual disability
0.12
microcephaly
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Gamma-tubulin complex component 6

Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:11694571, PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809)