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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CWH43
cell wall biogenesis 43 C-terminal homolog
Chromosome 4 · 4p11
NCBI Gene: 80157Ensembl: ENSG00000109182.12HGNC: HGNC:26133UniProt: B4DU47
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GPI anchor biosynthetic processendoplasmic reticulummembranetype 2 diabetes mellitusAbruptio Placentaediabetic retinopathymajor depressive disorder
✦AI Summary

CWH43 is a lipid remodeling enzyme involved in GPI-anchor maturation 1 that localizes to the endoplasmic reticulum and participates in glycosylphosphatidylinositol anchor biosynthesis. Mechanistically, CWH43 modifies the lipid anchors of GPI-anchored proteins, enabling their proper localization to cell membranes 1. Loss-of-function CWH43 variants have significant neurological implications: heterozygous deletions were identified in 10-15% of idiopathic normal pressure hydrocephalus (iNPH) patients in initial US cohorts 1, though subsequent population-scale studies in Finnish and Norwegian cohorts revealed lower prevalence (2.9-5.2%) with minimal disease risk effect 2. Mechanistically, CWH43 deletions decrease N-glycosylation of L1CAM, a critical neuronal cell adhesion molecule, reducing its membrane stability and increasing plasmin-mediated proteolytic cleavage 3. This leads to increased L1CAM shedding in cerebrospinal fluid and impaired intracellular signaling, particularly in ventricular zones where CWH43 is highly expressed 3. Beyond neurology, CWH43 functions as a tumor suppressor in colorectal cancer, with reduced expression correlating with poor prognosis 4. CWH43 suppression promotes epithelial-mesenchymal transition and cell proliferation via increased TTK-mediated cell cycle activity 4. CWH43 has also been identified as a diagnostic biomarker in ulcerative colitis 5.

Sources cited
1
CWH43 modifies lipid anchors of GPI-anchored proteins; heterozygous CWH43 deletions found in 15% of iNPH patients; mouse models show decreased ependymal cilia and impaired GPI-protein localization
PMID: 33459505
2
CWH43 deletion decreases L1CAM N-glycosylation and membrane localization, increasing plasmin-mediated cleavage and cerebrospinal fluid shedding in ventricular zones
PMID: 34380733
3
Population-scale study found CWH43 variants in 2.9-5.2% of iNPH patients with no significant effect on disease risk or clinical phenotype
PMID: 39948543
4
CWH43 acts as tumor suppressor in colorectal cancer; reduced expression correlates with poor prognosis and increased TTK-mediated cell cycle activity
PMID: 37894942
5
CWH43 identified as UC signature gene and diagnostic biomarker for ulcerative colitis subtypes
PMID: 38849409
6
CWH43 identified as NPH risk variant in systematic review of genetic contributions to normal pressure hydrocephalus
PMID: 40266017
7
CWH43 identified as differentially expressed suppressor gene in colorectal cancer microarray meta-analysis
PMID: 24959000
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.35Weak
Abruptio PlacentaeOpen Targets
0.29Weak
diabetic retinopathyOpen Targets
0.28Weak
major depressive disorderOpen Targets
0.12Weak
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
Dandy-Walker syndromeOpen Targets
0.07Suggestive
hydrocephalus, congenital communicating, 1Open Targets
0.06Suggestive
megalencephaly, autosomal dominantOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Craniosynostosis - Dandy-Walker malformation - hydrocephalusOpen Targets
0.06Suggestive
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndromeOpen Targets
0.06Suggestive
PineocytomaOpen Targets
0.05Suggestive
craniofacial conodysplasiaOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
central neurocytomaOpen Targets
0.05Suggestive
normal pressure hydrocephalusOpen Targets
0.05Suggestive
intellectual developmental disorder, autosomal recessive 69Open Targets
0.05Suggestive
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalusOpen Targets
0.05Suggestive
spastic paraplegia 88, autosomal dominantOpen Targets
0.05Suggestive
oxoglutaricaciduriaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIGAShared pathway100%PIGCShared pathway100%PIGFShared pathway100%PIGHShared pathway100%PIGLShared pathway100%PIGBShared pathway100%
Tissue Expression6 tissues
Liver
100%
Lung
45%
Bone Marrow
6%
Ovary
6%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
CWH43PIGAPIGCPIGFPIGHPIGLPIGB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H720
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.06 [0.86–1.31]
RankingsWhere CWH43 stands among ~20K protein-coding genes
  • #17,039of 20,598
    Most Researched10
  • #13,812of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedCWH43
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Increased plasmin-mediated proteolysis of L1CAM in a mouse model of idiopathic normal pressure hydrocephalus.
PMID: 34380733
Proc Natl Acad Sci U S A · 2021
1.00
2
Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study.
PMID: 39948543
Fluids Barriers CNS · 2025
0.90
3
CWH43 Is a Novel Tumor Suppressor Gene with Negative Regulation of TTK in Colorectal Cancer.
PMID: 37894942
Int J Mol Sci · 2023
0.80
4
Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.
PMID: 40266017
Mov Disord · 2025
0.70
5
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.
PMID: 33459505
EMBO Mol Med · 2021
0.60