full name
survival of motor neuron 1, telomeric
synonyms
BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A, SMN1, ENSG00000172062
HGNC
HGNC:11117
Entrez Gene
Gene:6606
ENSEMBL
ENSG00000172062
location
chr: 5
start: 70220768
stop: 70248839
strand: +
OMIM
OMIM:600354:
SMN1
(Autosomal recessive inheritance)
OMIM:253300:
Spinal muscular atrophy-1
OMIM:253550:
Spinal muscular atrophy-2
OMIM:253400:
Spinal muscular atrophy-3
OMIM:271150:
Spinal muscular atrophy-4
transcripts
NM_000344.3
NM_022874.2
pathways
Gene Expression
[NCBI:1269649]
[REACTOME:R-HSA-74160]
Metabolism of non-coding RNA
[NCBI:1269731]
[REACTOME:R-HSA-194441]
RNA transport
[NCBI:177876]
[KEGG:hsa03013]
[PUBMED:10872469]
[PUBMED:17401408]
[PUBMED:20733056]
[PUBMED:11018020]
[PUBMED:15519698]
[PUBMED:16314458]
[PUBMED:15901496]
[PUBMED:9548260]
[PUBMED:18313922]
snRNP Assembly
[NCBI:1269732]
[REACTOME:R-HSA-191859]
[PUBMED:15130578]
