CWH43
Cell Wall Biogenesis Protein 43 Homolog
Gene Information Card
| Symbol | CWH43 |
|---|---|
| Full Name | Cell Wall Biogenesis Protein 43 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 4p11 |
| NCBI Gene ID | 80157 ncbi.nlm.nih.gov/gene/80157 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q3MIR4 |
| OMIM ID | 617303 |
| HGNC ID | 28326 |
| Aliases | FLJ13154, dJ1057B20.2 |
Description
CWH43 encodes a protein involved in cell wall biogenesis, specifically in the synthesis of glycosylphosphatidylinositol (GPI) anchors. The protein is predicted to function in the endoplasmic reticulum and is conserved across eukaryotes. Mutations in CWH43 are associated with autosomal recessive intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive intellectual disability | Loss-of-function mutations impair GPI anchor biosynthesis, affecting neuronal development | PMID: 25480036; ClinVar |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disruption of GPI anchor pathway leads to abnormal cell signaling | PMID: 31006510; OMIM 617303 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 3.2 | Low |
| Testis | 2.8 | Low |
| Kidney | 1.5 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 1.8 | Low expression |
| SH-SY5Y | 2.1 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function |
| c.1576G>A (p.Gly526Arg) | Missense | Rare | Likely damaging |
| c.2215_2216del (p.Leu739Valfs*3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of GPI anchor synthesis function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GPI anchor biosynthetic process | • Endoplasmic reticulum membrane |
| • Transferase activity |
Pathways
• GPI anchor biosynthesis
Protein Summary
The CWH43 protein is a transmembrane protein localized to the endoplasmic reticulum, involved in the later steps of GPI anchor assembly. It is essential for proper cell surface expression of GPI-anchored proteins, which play critical roles in cell adhesion, signaling, and neurodevelopment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CWH43 Knockout HEK293 Cell Line | EDJ-KQ9469 | Human | 80157 | Details Get a Quote |
| CWH43 Knockout HeLa Cell Line | EDJ-KQ57299 | Human | 80157 | Details Get a Quote |
| CWH43 Knockout A-549 Cell Line | EDJ-KQ65807 | Human | 80157 | Details Get a Quote |
| CWH43 Knockout HCT 116 Cell Line | EDJ-KQ74231 | Human | 80157 | Details Get a Quote |
