ZFYVE26
Zinc Finger FYVE-Type Containing 26
Gene Information Card
| Symbol | ZFYVE26 |
|---|---|
| Full Name | Zinc Finger FYVE-Type Containing 26 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 23503 ncbi.nlm.nih.gov/gene/23503 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q68CZ2 |
| OMIM ID | 612012 |
| HGNC ID | 20713 |
| Aliases | FYVE-CENT, spastizin, KIAA0321, HSP15 |
Description
ZFYVE26 encodes spastizin, a FYVE domain-containing protein involved in autophagic lysosome reformation and endosomal trafficking. Mutations in this gene cause autosomal recessive hereditary spastic paraplegia type 15 (HSP15), characterized by progressive spasticity and neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 15 (HSP15) | Loss-of-function mutations impair autophagic lysosome reformation and endosomal transport, leading to axonal degeneration. | Multiple reports in ClinVar and OMIM; confirmed by functional studies. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Adrenal Gland | 5.1 | Low |
| Kidney | 4.8 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 7.9 | Neuronal model |
| HeLa | 6.3 | Cervical carcinoma |
| HEK293 | 5.8 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1741C>T (p.Arg581*) | Nonsense | Rare | Premature truncation; loss of function |
| c.3343C>T (p.Arg1115*) | Nonsense | Rare | Premature truncation; loss of function |
| c.4993C>T (p.Arg1665*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated spastizin protein; impaired autophagy and endosomal trafficking.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Autophagic lysosome reformation | • Endosomal transport |
| • Protein localization to lysosome | • FYVE zinc finger domain binding |
| • Phosphatidylinositol-3-phosphate binding |
Pathways
• Autophagy-lysosome pathway
• Endosomal trafficking
Protein Summary
Spastizin is a 2539-amino acid protein containing a FYVE domain that binds phosphatidylinositol-3-phosphate, localizing to endosomes and autophagic membranes. It is essential for autophagic lysosome reformation and endosome-to-Golgi transport. Loss of spastizin leads to accumulation of autolysosomes and impaired axonal maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFYVE26 Knockout HEK293 Cell Line | EDJ-KQ8032 | Human | 23503 | Details Get a Quote |
| ZFYVE26 Knockout HeLa Cell Line | EDJ-KQ32477 | Human | 23503 | Details Get a Quote |
| ZFYVE26 Knockout A-549 Cell Line | EDJ-KQ33814 | Human | 23503 | Details Get a Quote |
| ZFYVE26 Knockout HCT 116 Cell Line | EDJ-KQ33815 | Human | 23503 | Details Get a Quote |
