| Type | Description |
|---|---|
| Definition | dymeclin |
| Date | Results | Publications |
|---|---|---|
| 2016-01-30 12:13:00 | Dymeclin is crucial for proper myelination and anterograde neuronal trafficking, two processes that are highly active during postnatal brain maturation. | 25652408 |
| 2014-07-26 10:57:00 | The clinical diagnosis was confirmed with molecular analysis of DYM with a known mutation at c.580C>T (p.R194X). | 24300288 |
| 2011-07-02 10:44:00 | A novel homozygous splice-site mutation (IVS15+3G>T)of dymeclin gene in the 18q12-12.1 chromosomal region was detected in Dyggve-Melchior-Clausen syndrome. | 20865280 |
| 2011-03-26 10:23:00 | Data reveal Dymeclin driven processes central to bone development pathways, including Golgi organization, Golgi-coupled protein secretion, and collagen deposition in the extracellular matrix. | 21280149 |
| 2011-02-05 11:20:00 | dymeclin gene has a role in Golgi function and vesicular transport in the presynapse in schizophrenia in the Japanese population | 20555340 |
| Type | IDs |
|---|---|
| Synonymous | DMC, SMC |
| Gene |
UniProtKB-ID:
DYM_HUMAN
UniprotKB:
Q7RTS9
UniParc:
UPI00001AE953,
UPI00017A73D1
EMBL:
BC001252,
BK000950,
AK091256,
AY364250,
AL390156,
CH471096,
AK074611,
AK315091,
BC064394,
AK291303,
AK296579
Ensembl:
ENSG00000141627
KO:
hsa:54808
|
| Nucleutide sequences |
EMBL-CDS:
AAH01252.2,
EAW62933.1,
AAQ76809.1,
CAB99092.1,
BAG59199.1,
BAF83992.1,
DAA00396.1,
BAG37556.1,
AAH64394.1,
BAC11088.1,
BAG52319.1
Ensembl_TRS:
ENST00000442713,
ENST00000269445
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000269445,
ENSP00000395942
RefSeq:
NP_001361364.1,
NP_001361369.1,
NP_001340142.1,
NP_001361373.1,
NP_001361372.1,
NP_001340143.1,
XP_006722555.1,
NP_060123.3,
NP_001340145.1,
NP_001361366.1,
XP_011524344.1,
NP_001361365.1,
NP_001361357.1,
NP_001361360.1,
XP_011524341.1,
XP_011524339.1,
NP_001361368.1,
XP_016881285.1,
NP_001340144.1,
NP_001340139.1,
NP_001361363.1,
NP_001340140.1,
XP_011524340.1,
NP_001361362.1,
NP_001340141.1,
NP_001361371.1,
NP_001361367.1,
NP_001361358.1,
XP_016881284.1,
NP_001361361.1,
NP_001361370.1,
XP_011524342.1,
XP_011524338.1,
NP_001361359.1,
XP_011524343.1
|
| Others |
UniRef100:
UniRef100_Q7RTS9
UniRef90:
UniRef90_Q7RTS9
UniRef50:
UniRef50_Q7RTS9
UniGene:
Hs.162996
CCDS:
CCDS11937.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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