protein 3,060 words KG: GEMIN6PROTEIN 2026-03-28
kind:proteinsection:proteinsstate:published
Contents

Gemin-6 Protein

🔬 Protein Info
Gene SymbolGEMIN6
Full NameGem-Associated Protein 6
AliasesGEMIN6PROTEIN
Chromosome2p16.3
Functionis a component of the SMN (Survival of Motor Neurons) complex, which is essential for the biogenesis of small nuclear ribonucleoproteins (snRNPs) crucial for pre-mRNA splicing.
Primary Expressionmotor neurons, and mutations in SMN1 (the primary SMA-causing gene) lead to spinal muscular atrophy (SMA)
Subcellular LocalizationCajal bodies (coiled bodies) within the nucleus, where it orchestrates the recruitment of the heptameric Sm protein comp
Amino Acids244 aa
UniProt ID[Q9Y5B2](https://www.uniprot.org/uniprotkb/Q9Y5B2)
Ensembl IDENSG00000179750
OMIM609651
GeneCardsGEMIN6
Human Protein AtlasGEMIN6
Subcomplex formationThe Gemin-6/Gemin-7 heterodimer is exceptionally stable, with a binding affinity in the nanomolar range. This stability is achieved through complementary hydrophobic surfaces and ionic interactions.
Extended interfaceThe Gemin-6/7 dimer provides a platform for Gemin-8 binding, creating the trimeric subcomplex. The Gemin-8 binding interface is distinct from the Gemin-7 interface, allowing sequential assembly.
Associated DiseasesAlzheimer's disease, Parkinson's disease
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph