| Type | Description |
|---|---|
| Definition | leiomodin 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-28 11:53:00 | LMOD3 is expressed in the brain and colocalized with major structures involved in the regulation of vigilance states. LMOD proteins are structural proteins and seem to be developmentally regulated. | 29923248 |
| 2019-09-07 12:01:00 | We characterized the clinical features and the genetic status of 4 unrelated adolescent or adult patients with nemaline myopathy due to the missense variant c.1648C>T, p.(Leu550Phe) in the LMOD3 gene, either on both alleles or in trans with another missense variant (c.1004A>G, p.Gln335Arg). | 30291184 |
| 2019-01-12 10:51:00 | The LMOD3 gene encodes leiomodin 3, a member of the tropomodulin family of proteins, which is expressed in skeletal muscle from the early stages of differentiation and plays a role in actin thin-filament nucleation. | 29331079 |
| 2018-02-10 11:09:00 | LMOD3 mutation is associated with congenital myopathy. | 28815944 |
| 2015-03-07 10:59:00 | LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle. | 25250574 |
| Type | IDs |
|---|---|
| Synonymous | NEM10 |
| Gene |
UniProtKB-ID:
LMOD3_HUMAN
UniprotKB:
Q0VAK6
UniParc:
UPI0000070839,
UPI00001612AC
EMBL:
AK057852,
BC039202,
AK300096,
AL832709,
AM393202,
BC121019
Ensembl:
ENSG00000163380
KO:
hsa:56203
|
| Nucleutide sequences |
EMBL-CDS:
AAH39202.1,
CAL38080.1,
BAG61897.1,
BAB71596.1,
AAI21020.1,
CAI46110.1
Ensembl_TRS:
ENST00000475434,
ENST00000420581,
ENST00000489031
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000418645,
ENSP00000414670,
ENSP00000417210
RefSeq:
NP_001291347.1,
NP_938012.2
|
| Others |
UniRef100:
UniRef100_Q0VAK6
UniRef90:
UniRef90_Q0VAK6
UniRef50:
UniRef50_Q0VAK6
UniGene:
Hs.350621
CCDS:
CCDS46862.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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