CAMSAP1

protein-coding

calmodulin regulated spectrin associated protein 1, the group of CAMSAP family

Gene summary

Enables microtubule minus-end binding activity and spectrin binding activity. Involved in microtubule cytoskeleton organization; neuron projection development; and regulation of microtubule polymerization. Located in cytosol; microtubule minus-end; and mitotic spindle. Implicated in complex cortical dysplasia with other brain malformations 12. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_015447.4

Inheritance

ClinVar variants

P:8U:247B:45

Top phenotype

Cortical dysplasia, complex, with other brain malformations 12

gnomAD constraint

pLI —, LoF o/e 0.13

Max pathogenic AF

—

Genomic locus

chr9:135,808,487-135,907,546

External References & Databases

Ensembl (ENSG00000130559)

Transcript & Mutation Effects

hg38 • Region Span ~99.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

cortical dysplasia, complex, with other brain malformations 12MODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0957217

Submitter: G2P

cortical dysplasia, complex, with other brain malformations 12STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0957217

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Cortical dysplasia, complex, with other brain malformations 12AR

Manifestation: Craniofacial; Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 36283405

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CAMSAP1 variants in ClinVar

7 Conditions Cataloged

Inborn genetic diseasesTotal: 244

not providedTotal: 35

not specifiedTotal: 10

Cortical dysplasia, complex, with other brain malformations 12Total: 6

CAMSAP1-related neuronal migration disorderTotal: 6

CAMSAP1-related conditionTotal: 1

CAMSAP1-related disordersTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015447.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	20 clinvar	2 clinvar	25
missense			237 clinvar	22 clinvar	1 clinvar	260
nonsense		5 clinvar				5
start loss			1 clinvar			1
frameshift		3 clinvar	2 clinvar			5
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	8	247	42	3	300

Highest pathogenic variant AF is 0.000004106714

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015447.4	RefSeq	NP_056262.3	17	MANE Select
ENST00000389532.9	Ensembl	ENSP00000374183.4	17	MANE Select
NM_001411031.1	RefSeq	NP_001397960.1	12	Standard
NM_001437279.1	RefSeq	NP_001424208.1	18	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

microtubule cytoskeleton organization
cytoskeleton organization
negative regulation of microtubule depolymerization
regulation of cell morphogenesis
regulation of microtubule polymerization

Molecular Function

calmodulin binding
microtubule binding
spectrin binding
microtubule minus-end binding

Cellular Component

cytoplasm
microtubule
microtubule minus-end

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000389532
Coding exons: 17
Length: 98742
Individuals with no LoFs: 125577
Homozygous LoFs: 0
Heterozygous LoFs: 16
Defined: 125593
p: 0.0000637

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.15	763	950	0.803	0.0000609	10474
Missense (PolyPhen)		141	246.69	0.57156		2616
Synonymous	-0.674	425	408	1.04	0.0000298	3147
Loss of Function	6.25	8	60.4	0.132	0.00000335	739

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00015	0.00014	rare
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24486153, PubMed:24706919, PubMed:24117850). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule- nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (- TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850). {ECO:0000269|PubMed:19508979, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:24117850, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

RVIS EVS: -2.65
RVIS percentile EVS: 0.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.382

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium