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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
C18orf32
chromosome 18 open reading frame 32
Chromosome 18 Β· 18q21.1
NCBI Gene: 497661Ensembl: ENSG00000177576.13HGNC: HGNC:31690UniProt: Q8TCD1
13PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingpositive regulation of canonical NF-kappaB signal transductionendoplasmic reticulumlipid dropletglycosylphosphatidylinositol biosynthesis defect 25neurodegenerative diseaseattention deficit hyperactivity disorderhereditary attention deficit-hyperactivity disorder
✦AI Summary

C18orf32 is a protein essential for glycosylphosphatidylinositol (GPI) biosynthesis, specifically functioning in GPI-inositol deacylation 1. The protein localizes to the endoplasmic reticulum and is critical for proper GPI-anchor synthesis and cell surface protein anchoring 1. Loss-of-function mutations impair PIPLC sensitivity of GPI-anchored proteins, disrupting normal GPI biosynthetic pathways 1. C18orf32 is involved in multiple disease contexts. Homozygous loss-of-function variants cause an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, brain anomalies, hypotonia, and contractures 1. Additionally, the chimeric RNA RPL17-C18orf32 participates in environmental toxicity responses; the CYP1A1/RPL17-C18orf32 axis mediates polycyclic aromatic hydrocarbon-induced respiratory toxicity, DNA damage, and cellular dysfunction 2. C18orf32 expression is dysregulated in Alzheimer's disease pathology. In cognitively healthy individuals accumulating brain amyloid, RPL17-C18orf32 showed strong evidence for pathogenic relevance with high direct association scores for Alzheimer's disease risk 3. These findings establish C18orf32 as a multifunctional gene involved in GPI biosynthesis, neurodevelopment, environmental toxin response, and Alzheimer's disease pathogenesis.

Sources cited
1
C18orf32 is essential for GPI-inositol deacylation in GPI biosynthesis; loss-of-function mutations cause neurodevelopmental disorder with hypotonia and contractures
PMID: 35107634
2
RPL17-C18orf32 chimeric RNA mediates polycyclic aromatic hydrocarbon-induced respiratory toxicity and DNA damage through the CYP1A1 axis
PMID: 41218492
3
RPL17-C18orf32 shows strong association with Alzheimer's disease risk in amyloid-accumulating cognitively healthy individuals
PMID: 37438770
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
glycosylphosphatidylinositol biosynthesis defect 25Open Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.22Weak
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
intellectual developmental disorder, autosomal dominant 69Open Targets
0.04Suggestive
Brunner syndromeOpen Targets
0.04Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
aneurysmOpen Targets
0.03Suggestive
Potocki-Lupski syndromeOpen Targets
0.03Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.03Suggestive
tympanic membrane perforationOpen Targets
0.03Suggestive
X-linked dominant intellectual disability - epilepsy syndromeOpen Targets
0.03Suggestive
osteoarthritis, kneeOpen Targets
0.03Suggestive
total knee arthroplastyOpen Targets
0.03Suggestive
Glycosylphosphatidylinositol biosynthesis defect 25UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CXXC5Shared pathway100%CC2D1AShared pathway100%TMEM9BShared pathway100%TMEM101Shared pathway100%LURAP1LShared pathway100%RPL17-C18orf32Co-mentioned in literature100%
Tissue Expression6 tissues
Brain
100%
Ovary
43%
Liver
37%
Heart
30%
Lung
27%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
C18orf32CXXC5CC2D1ATMEM9BTMEM101LURAP1LRPL17-C18orf32
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TCD1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.56LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF0.71 [0.35–1.56]
RankingsWhere C18orf32 stands among ~20K protein-coding genes
  • #16,110of 20,598
    Most Researched13
  • #15,480of 17,882
    Most Constrained (LOEUF)1.56
Genes detectedC18orf32
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Longitudinal APOE4- and amyloid-dependent changes in the blood transcriptome in cognitively intact older adults.
PMID: 37438770
Alzheimers Res Ther Β· 2023
1.00
2
The CYP1A1/ chimeric RNA RPL17-C18orf32 axis mediates Benzo[ghi]perylene induced-respiratory toxicity and DNA damage in vitro and in vivo.
PMID: 41218492
Ecotoxicol Environ Saf Β· 2025
0.67
3
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
PMID: 35107634
Hum Genet Β· 2022
0.33