Gene
SPG11
SPG11 vesicle trafficking associated, spatacsin
- HGNC 11226(opens in a new tab)
- Ensembl gene ENSG00000104133(opens in a new tab)
- NCBI Gene 80208(opens in a new tab)
Summary
- Cytogenetic location
- 15q21.1
- Coordinates
- Chromosome 15: 44,562,696–44,663,662 (GRCh38)
- Exons
- 40 exons across 101 kb
- Protein
- 2,443 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- FLJ21439
- Previous symbols
- KIAA1840, ALS5
- MANE Select transcript
- ENST00000261866.12NM_025137.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read SPG11, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Amyotrophic Lateral Sclerosis (ALS)
- Amyotrophic Lateral Sclerosis
A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members
Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia 11Autosomal recessive
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Broader groupings
Charcot-Marie-Tooth Disease
One of 62 genes linked to it
A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SPG11 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.8 kb of the gene's 101 kb; 7,332 of those bases code for the protein.
How a genome test reads SPG11
471
positions in SPG11 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 101 kb of SPG11, introns included, not only the 7.8 kb of exons.
Traits linked to SPG11
The Human Phenotype Ontology lists these as features of the rare conditions SPG11 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal pyramidal sign
- Babinski sign
- Intellectual disability, mild
- Lou Gehrig's disease
- Mental deterioration
- Motor polyneuropathy
- Nerve damage causing decreased feeling and movement
- Overactive lower leg reflex
Show 59 more traits
- Partial paralysis of legs
- Peripheral axonal neuropathy
- Specific learning disability
- Underdevelopment of part of brain called corpus callosum
- Abnormal gait
- Abnormal speech pattern
- Arm dystonia
- Ataxia
- Behavioral abnormality
- Brisk reflexes
- Bulbar signs
- Can't control feelings
- CNS hypomyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Delayed ability to walk
- Difficulty articulating speech
- Dystonia
- Frontal cortical atrophy
- Hyperintensity of cerebral white matter on MRI
- Inability to walk
- Intellectual disability
- Lateral ventricle dilatation
- Memory impairment
- Muscle twitch
- Postural tremor
- Short attention span
- Upper limb hyperreflexia
- Abnormal substantia nigra morphology
- Abnormality of extrapyramidal motor function
- Abnormality of the cerebellum
- Axial dystonia
- Chorea
- Clonus
- Cognitive impairment
- Degeneration of the spinal cord
- Dementia
- Epilepsy
- Focal T2 hyperintense basal ganglia lesion
- Global developmental delay
- Head titubation
- Hypothalamic atrophy
- Impaired distal vibration sensation
- Loss of articulate speech
- Oromandibular dystonia
- Parkinsonism
- Positive Romberg sign
- Psychosis
- Toe walking
- Abnormal lower motor neuron morphology
- Abnormal periventricular white matter morphology
- Agenesis of corpus callosum
- Damage to nerves that sense feeling
- Decreased number of peripheral myelinated nerve fibers
- Decreased sensation in extremities
- Degeneration of the lateral corticospinal tracts
- Distal peripheral sensory neuropathy
- Impaired vibration sensation in the lower limbs
- Increased reflexes
- Knee clonus
Abnormality of the musculoskeletal system
- Distal muscle wasting
- Weakness of outermost muscles
- Lower limb spasticity
- Muscle degeneration
- Muscle weakness
- Progressive spasticity
- Uncontrollable movement in upper arms
- Distal lower limb amyotrophy
Show 17 more traits
- EMG: axonal abnormality
- EMG: neuropathic changes
- Kyphoscoliosis
- Lower-limb joint contracture
- Muscle fiber degeneration
- Spastic diplegia
- Spasticity and rigidity of muscles
- Upper-limb joint contracture
- Decreased lung function due to weak breathing muscles
- Generalized muscle wasting
- Neck flexion weakness
- Opisthotonus
- Proximal neurogenic muscle weakness
- Scoliosis
- Involuntary muscle stiffness, contraction, or spasm
- Spastic paraplegia
- Spastic walk
Abnormality of the eye
- Abnormality of pattern visual evoked potentials
- Involuntary, rapid, rhythmic eye movements
- Saccadic smooth pursuit interruptions
- Cross-eyed
- Retina degeneration
- Supranuclear gaze palsy
- Visual impairment
- Gaze-evoked nystagmus
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SPG11 gene: SPG11 vesicle trafficking associated, spatacsin. Retrieved 17 October 2026, from https://dantelabs.com/genes/spg11
Dante Labs. SPG11 gene: SPG11 vesicle trafficking associated, spatacsin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spg11
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks