Preferred Label : survival of motor neuron 1 protein;
MeSH definition : A SMN complex protein that is essential for the function of the SMN protein complex.
In humans the protein is encoded by a single gene found near the inversion telomere
of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival
of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.; An SMN complex protein that contains a TUDOR DOMAIN and is essential for the function
of the SMN protein complex. In humans, the protein is encoded by a single gene found
near the inversion TELOMERE of a large inverted region of CHROMOSOME 5. Mutations
in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR
ATROPHIES OF CHILDHOOD.;
MeSH synonym : Survival Motor Neuron Protein 1; Survival of Motor Neuron 1, Telomeric Protein; SMN Protein (Spinal Muscular Atrophy);
A SMN complex protein that is essential for the function of the SMN protein complex.
In humans the protein is encoded by a single gene found near the inversion telomere
of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival
of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD. An SMN complex protein that contains a TUDOR DOMAIN and is essential for the function
of the SMN protein complex. In humans, the protein is encoded by a single gene found
near the inversion TELOMERE of a large inverted region of CHROMOSOME 5. Mutations
in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR
ATROPHIES OF CHILDHOOD.