| Type | Description |
|---|---|
| Definition | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
| Date | Results | Publications |
|---|---|---|
| 2019-11-16 11:02:00 | We highlight the findings in two affected siblings with splice altering variants in ALG14 and propose a new clinical entity, which includes severe intellectual disability, epilepsy, behavioral problems and mild dysmorphic features, caused by biallelic variants in ALG14. | 30221345 |
| 2017-12-02 10:54:00 | New ALG14 congenital disorder of glycosylation with early and lethal neurodegeneration with myasthenic and myopathic features. | 28733338 |
| 2013-04-27 12:09:00 | We identify ALG14 and ALG2 as novel genes in which mutations cause a congenital myasthenic syndrome | 23404334 |
| 2010-01-21 00:00:00 | ALG13 and ALG14 form a functional endoplasmic reticulum UDP-N-acetylglucosamine transferase | 16100110 |
| Type | IDs |
|---|---|
| Synonymous | CMS15 |
| Gene |
UniProtKB-ID:
ALG14_HUMAN
UniprotKB:
Q96F25
UniParc:
UPI0000071DA6
EMBL:
BC011706,
AK289395,
CH471097
Ensembl:
ENSG00000172339
KO:
hsa:199857
|
| Nucleutide sequences |
EMBL-CDS:
AAH11706.1,
BAF82084.1,
EAW73027.1
Ensembl_TRS:
ENST00000370205
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359224
RefSeq:
NP_659425.1,
XP_011539199.1,
NP_001292171.1,
XP_005270639.1
|
| Others |
UniRef100:
UniRef100_Q96F25
UniRef90:
UniRef90_Q96F25
UniRef50:
UniRef50_Q96F25
UniGene:
Hs.408927
CCDS:
CCDS752.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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