gene 1,710 words KG: GEMIN6 2026-03-27
kind:genesection:genestopic:alzheimerstopic:parkinsons
Contents

GEMIN6 — Gem-Associated Protein 6

🧬 Gene Info
Gene SymbolGEMIN6
Full NameGem-Associated Protein 6
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)
Amino Acids244 aa
UniProt ID[Q9Y5B2](https://www.uniprot.org/uniprotkb/Q9Y5B2)
Ensembl IDENSG00000179750
OMIM609651
GeneCardsGEMIN6
Human Protein AtlasGEMIN6
SMNCentral scaffold, catalytic core
GEMIN1Major scaffolding protein
GEMIN2Stabilizes SMN-Sm complex
GEMIN3 (DDX20)RNA helicase activity
Associated DiseasesAlzheimer's disease, Parkinson's disease
DatabasesGeneCardsNCBI GeneHPASTRING

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