Identity
HGNC
LOCATION
Xp22.12
LOCUSID
ALIAS
Chisel,Csl,DFN6,DFNX4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23676
MIM: 300226
HGNC: 11122
Ensembl: ENSG00000091482
Variants:
dbSNP: 23676
ClinVar: 23676
TCGA: ENSG00000091482
COSMIC: SMPX
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33974137 | 2021 | Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. | 3 |
| 33974137 | 2021 | Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. | 3 |
| 31583691 | 2020 | In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene. | 12 |
| 31583691 | 2020 | In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene. | 12 |
| 31478598 | 2019 | Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. | 8 |
| 31478598 | 2019 | Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. | 8 |
| 29287879 | 2018 | A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. | 5 |
| 29559740 | 2018 | A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family. | 5 |
| 29287879 | 2018 | A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. | 5 |
| 29559740 | 2018 | A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family. | 5 |
| 28542515 | 2017 | A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. | 9 |
| 28542515 | 2017 | A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. | 9 |
| 27181368 | 2016 | The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation. | 7 |
| 27181368 | 2016 | The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation. | 7 |
| 24687041 | 2014 | X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. | 5 |
Citation
Dessen P
SMPX (small muscle protein X-linked)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73591/submit-meetings/meetings/
