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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CAMSAP1
calmodulin regulated spectrin associated protein 1
Chromosome 9 Β· 9q34.3
NCBI Gene: 157922Ensembl: ENSG00000130559.19HGNC: HGNC:19946UniProt: A0A384NY94
64PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule minus-endcytosolmicrotubulemitotic spindlecortical dysplasia, complex, with other brain malformations 12neurodegenerative diseaselagophthalmosintestinal disease
✦AI Summary

CAMSAP1 is a key microtubule-organizing protein that specifically recognizes and stabilizes the minus-ends of non-centrosomal microtubules 1. It functions as a minus-end tracking protein (-TIP) that binds at growing microtubule minus-end tips and protects them from depolymerization without significantly affecting polymerization rates 23. Through spectrin interaction, CAMSAP1 regulates neurite outgrowth and is critical for neuronal migration and brain development 45. CAMSAP1 plays essential roles in spermiogenesis by orchestrating manchette microtubule dynamics; its loss disrupts sperm development and causes infertility phenotypes 6. Bi-allelic loss-of-function variants in CAMSAP1 cause a clinically recognizable neuronal migration disorder characterized by severe microcephaly, lissencephaly with posterior gradient, corpus callosum hypoplasia, neurodevelopmental delay, and seizures 5. CAMSAP1 is associated with cortical dysplasia and developmental malformations 7. The gene is also implicated in intellectual disability in consanguineous populations 8 and represents a hub gene in brain aging networks 9. CAMSAP1 expression regulates microtubule formation in cancer contexts, with implications for tumor biology 10.

Sources cited
1
CKK domain of CAMSAP1 binds microtubules and is conserved across metazoans
PMID: 19508979
2
CAMSAP1 acts as a minus-end tracking protein that stabilizes and tracks growing microtubule minus-ends
PMID: 24486153
3
CAMSAP1 binds microtubule minus-end tips and protects from depolymerization without affecting polymerization rate
PMID: 24706919
4
CAMSAP1 interacts with spectrin to regulate neurite outgrowth
PMID: 24117850
5
Bi-allelic CAMSAP1 loss-of-function variants cause syndromic neuronal migration disorder with lissencephaly, microcephaly, and seizures
PMID: 36283405
6
CAMSAP1 loss disrupts manchette microtubule organization and causes male infertility through impaired spermiogenesis
PMID: 37903275
7
CAMSAP1 autosomal recessive mutations associate with cortical developmental malformations including pachygyria and lissencephaly
PMID: 39724270
8
CAMSAP1 identified as candidate gene in intellectual disability study of Middle Eastern families
PMID: 36344539
9
CAMSAP1 is a hub gene in brain aging networks with high connectivity and significance
PMID: 30210331
10
CAMSAP1 expression induces microtubule formation and aggregation in cancer contexts
PMID: 24603804
11
CAMSAP1 localizes to non-centrosomal microtubule organizing centers during spermatogenesis
PMID: 38943004
Disease Associationsβ“˜21
cortical dysplasia, complex, with other brain malformations 12Open Targets
0.65Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
intestinal diseaseOpen Targets
0.28Weak
lagophthalmosOpen Targets
0.28Weak
sialolithiasisOpen Targets
0.28Weak
vascular diseaseOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
Abnormality of neuronal migrationOpen Targets
0.19Weak
cancerOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
isolated focal cortical dysplasiaOpen Targets
0.04Suggestive
adolescent idiopathic scoliosisOpen Targets
0.04Suggestive
lissencephaly type 1 due to doublecortin gene mutationOpen Targets
0.03Suggestive
small cell lung carcinomaOpen Targets
0.03Suggestive
lissencephaly due to TUBA1A mutationOpen Targets
0.03Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
subependymal nodular heterotopiaOpen Targets
0.03Suggestive
Cortical dysplasia, complex, with other brain malformations 12UniProt
Pathogenic Variants5
NM_015447.4(CAMSAP1):c.2717_2738del (p.Gln906fs)Pathogenic
CAMSAP1-related neuronal migration disorder|Cortical dysplasia, complex, with other brain malformations 12
β˜…β˜…β˜†β˜†2024β†’ Residue 906
NM_015447.4(CAMSAP1):c.4193C>G (p.Ser1398Ter)Pathogenic
not provided|CAMSAP1-related neuronal migration disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 1398
NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter)Likely pathogenic
not provided|CAMSAP1-related neuronal migration disorder|Cortical dysplasia, complex, with other brain malformations 12
β˜…β˜†β˜†β˜†2022β†’ Residue 1044
NM_015447.4(CAMSAP1):c.1707dup (p.Thr570fs)Likely pathogenic
not provided|CAMSAP1-related neuronal migration disorder|Cortical dysplasia, complex, with other brain malformations 12
β˜…β˜†β˜†β˜†2022β†’ Residue 570
NM_015447.4(CAMSAP1):c.1831A>T (p.Lys611Ter)Likely pathogenic
CAMSAP1-related neuronal migration disorder|Cortical dysplasia, complex, with other brain malformations 12
β˜…β˜†β˜†β˜†2022β†’ Residue 611
View on ClinVar β†—
Related Genes
TUBBProtein interaction100%TUBA1AProtein interaction90%TUBA1BProtein interaction90%TUBB2BProtein interaction90%UBAC1Protein interaction71%CAMSAP2Shared pathway38%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
63%
Heart
47%
Ovary
44%
Lung
32%
Liver
20%
Gene Interaction Network
Click a node to explore
CAMSAP1TUBBTUBA1ATUBA1BTUBB2BUBAC1CAMSAP2
PROTEIN STRUCTURE
Preparing viewer…
PDB6QUS Β· 3.70 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.43 [0.35–0.54]
RankingsWhere CAMSAP1 stands among ~20K protein-coding genes
  • #7,247of 20,598
    Most Researched64
  • #3,561of 5,498
    Most Pathogenic Variants5
  • #3,457of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedCAMSAP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
PMID: 36344539
Sci Rep Β· 2022
1.00
2
Spermatocytes have the capacity to segregate chromosomes despite centriole duplication failure.
PMID: 38943004
EMBO Rep Β· 2024
0.90
3
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
PMID: 39724270
Neurogenetics Β· 2024
0.80
4
CAMSAP1 role in orchestrating structure and dynamics of manchette microtubule minus-ends impacts male fertility during spermiogenesis.
PMID: 37903275
Proc Natl Acad Sci U S A Β· 2023
0.70
5
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
PMID: 36283405
Am J Hum Genet Β· 2022
0.60