ASPM

Chr 1q31.3

assembly factor for spindle microtubules

Aliases:: Calmbp1, ASP, FLJ10517, FLJ10549
MANE:: ENST00000367409.9

OMIM: 605481 ↗NCBI: 259266 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ASPM · Q8IZT6-2isoform

No predicted structure exists for the canonical Q8IZT6 sequence; metrics below describe this isoform.

v62025-08-01

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

Mean pLDDT

61.7/ 100

Low

1,892 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)48%
Low(50–70)12%
Very low(< 50)35%

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
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive primary microcephaly
0.79
hereditary disease
0.55
microcephaly 1, primary, autosomal recessive
0.51
developmental and epileptic encephalopathy 116
0.51
microcephaly
0.51
Abnormality of the nervous system
0.48
macular degeneration
0.48
age-related macular degeneration
0.42
fetal akinesia deformation sequence 1
0.41
arthrogryposis multiplex congenita
0.41

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

Protein function (UniProt)

Abnormal spindle-like microcephaly-associated protein

Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis

Curated MONDO disease pages that list ASPM among their top associated genes.

microcephalyRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with ASPM