protein 558 words KG: PFBN1PROTEIN 2026-03-21
kind:proteinsection:proteinsstate:published
Contents

PFBN1 Protein

🔬 Protein Info
Gene SymbolPFBN1
AliasesPFBN1PROTEIN
Subcellular Localization</strong></td><td>Cytoplasm, cytoskeleton</td></tr>
Molecular Weight15 kDa
GeneCardsPFBN1
Human Protein AtlasPFBN1
Seven β-strandsForm the protein core and create the binding interface
Two α-helicesN-terminal and C-terminal helices contribute to function
Poly-L-proline binding siteRecognizes proline-rich sequences in various proteins
Actin binding interfaceContacts G-actin to regulate polymerization
Dominant mutationsPFBN1 mutations cause familial ALS
Motor neuron degenerationLoss of PFBN1 function leads to motor neuron death
Cytoskeletal disruptionMutations disrupt actin dynamics essential for neuronal function
Stress granule dynamicsPFBN1 associates with stress granules under cellular stress
Synaptic functionPFBN1 regulates dendritic spine actin structure
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph