| Type | Description |
|---|---|
| Definition | ALG6 alpha-1,3-glucosyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-09 13:29:00 | Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. | 32407885 |
| 2017-12-09 13:06:00 | ALG6-CDG has been now described in 89 patients. | 27287710 |
| 2012-06-02 11:08:00 | Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A). | 21899441 |
| 2010-01-21 00:00:00 | A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. | 11875054 |
| 2010-01-21 00:00:00 | Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation. | 16321363 |
| Type | IDs |
|---|---|
| Synonymous | CDG1C |
| Gene |
UniProtKB-ID:
ALG6_HUMAN
UniprotKB:
Q9Y672
UniParc:
UPI00001E057D
EMBL:
AK022700,
AL049636,
BC001253,
AF102851,
CH471059,
AF063604,
AL592218
Ensembl:
ENSG00000088035
KO:
hsa:29929
|
| Nucleutide sequences |
EMBL-CDS:
AAG43163.1,
AAH01253.1,
EAX06571.1,
AAD41466.1,
BAG51104.1
Gene_ORFName:
My046
Ensembl_TRS:
ENST00000263440
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000263440
RefSeq:
NP_037471.2
|
| Others |
UniRef100:
UniRef100_Q9Y672
UniRef90:
UniRef90_Q9Y672
UniRef50:
UniRef50_Q9Y672
UniGene:
Hs.258501
CCDS:
CCDS30735.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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