MTCL1

Chr 18p11.22

microtubule crosslinking factor 1

MANE:: ENST00000695636.1

OMIM: 615766 ↗NCBI: 23255 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MTCL1 · Q9Y4B5

v62025-08-01

Predicted Aligned Error matrix for MTCL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

49.9/ 100

Very low

1,905 residues

Confidence breakdown

Very high(≥ 90)6%
Confident(70–90)22%
Low(50–70)6%
Very low(< 50)66%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

cerebellar ataxia
0.45
chronic obstructive pulmonary disease
0.41
Seizure
0.37
Mild intellectual disability
0.37
Abnormality of the skeletal system
0.35
protozoa infectious disease
0.34
central nervous system infectious disorder
0.27
obesity disorder
0.27
benign chondrogenic neoplasm
0.27
hereditary disease
0.19

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

Protein function (UniProt)

Microtubule cross-linking factor 1

Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation (PubMed:23902687). Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral membrane in polarized epithelial cells (PubMed:23902687). Required for faithful chromosome segregation during mitosis (PubMed:33587225)