Gene
CLPB
ClpB family mitochondrial disaggregase
- HGNC 30664↗(opens in a new tab)
- Ensembl gene ENSG00000162129↗(opens in a new tab)
- NCBI Gene 81570↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.4
- Coordinates
- Chromosome 11: 72,285,495–72,434,531 (GRCh38)
- Exons
- 16 exons across 149 kb
- Protein
- 677 amino acids
- Also known as
- SKD3, FLJ13152, ANKCLP
- MANE Select transcript
- ENST00000538039.6NM_001258392.3
- 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.
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Severe Congenital Neutropenia
- 1 GenCC submitter rates it definitive or strong
How CLPB 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 10 kb of the gene's 149 kb; 2,034 of those bases code for the protein.
How a genome test reads CLPB
37
positions in CLPB 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 149 kb of CLPB, introns included, not only the 10 kb of exons.
Genes linked to the same conditions
- CSF3Rcolony stimulating factor 3 receptorShares 1 condition
- CXCR2C-X-C motif chemokine receptor 2Shares 1 condition
- G6PC3glucose-6-phosphatase catalytic subunit 3Shares 1 condition
- GFI1growth factor independent 1 transcriptional repressorShares 1 condition
- HAX1HCLS1 associated protein X-1Shares 1 condition
- JAGN1jagunal vesicle mediated transporter 1Shares 1 condition
- SRP54signal recognition particle 54Shares 1 condition
- VPS45vacuolar protein sorting 45 homologShares 1 condition
- WASWASP actin nucleation promoting factorShares 1 condition
Traits linked to CLPB
The Human Phenotype Ontology lists these as features of the rare conditions CLPB can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Degeneration of cerebellum
- Abnormal basal ganglia morphology
- Abnormal periventricular white matter morphology
- Abnormal pyramidal sign
- Abnormality of extrapyramidal motor function
- Atypical absence seizure
Show 20 more traits
- Choreoathetosis
- Degeneration of cerebrum
- Delayed motor skills
- Encephalopathy
- Epilepsy
- Increased reflexes
- Intellectual disability
- Jerking
- Loss of developmental milestones
- Progressive extrapyramidal movement disorder
- Absent speech development
- Ataxia
- Delayed CNS myelination
- Difficulty articulating speech
- Dystonia
- Generalized-onset seizure
- Grand mal seizures
- Hyperactive movements
- Myoclonic seizure
- Tremor
Abnormality of the immune system
- Recurrent bacterial infections
- Recurrent viral infections
- Pneumonia
- Recurrent ear infections
- Recurrent infections
- Recurrent sinus and lung infections
- Recurrent skin infections
- Antineutrophil antibody positivity
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.). CLPB gene: ClpB family mitochondrial disaggregase. Retrieved 16 October 2026, from https://dantelabs.com/genes/clpb
Dante Labs. CLPB gene: ClpB family mitochondrial disaggregase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/clpb
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