| Type | Description |
|---|---|
| Definition | glycogen phosphorylase L |
| Date | Results | Publications |
|---|---|---|
| 2020-05-09 13:48:00 | Description of two GSD VI patients expanding the spectrum of PYGL mutations. | 32268899 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20800603 |
| 2010-06-30 22:05:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| 2010-01-21 00:00:00 | Susceptibility to excessive liver glycogen storage in patients with type 1 diabetes. | 15223230 |
| 2010-01-21 00:00:00 | Deficiency of liver glycogen phosphorylase is predominantly the result of missense mutations affecting enzyme activity. There are no common mutations and the severity of clinical symptoms varies significantly. | 17705025 |
| Type | IDs |
|---|---|
| Synonymous | GSD6 |
| Gene |
UniProtKB-ID:
PYGL_HUMAN
UniprotKB:
P06737
UniParc:
UPI000011136E,
UPI0001B1A4B7
EMBL:
AF046790,
AF046794,
AF046787,
BC009895,
AF046795,
CH471078,
BC095850,
Y15233,
M14636,
AF046796,
AF046792,
AF046789,
AF046798,
AF066858,
BC110791,
AF046791,
BC082229,
M36807,
AF046797,
AF046793,
AF046788,
AL358334,
AF046785,
AK300580
Ensembl:
ENSG00000100504
KO:
hsa:5836
|
| Nucleutide sequences |
EMBL-CDS:
AAC23504.1,
AAH95850.2,
AAA35906.1,
AAC17450.1,
AAA52577.1,
AAH09895.3,
AAI10792.2,
EAW65685.1,
AAC18079.1,
BAG62279.1,
AAH82229.2,
CAA75517.1
Ensembl_TRS:
ENST00000216392,
ENST00000544180
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000443787,
ENSP00000216392
RefSeq:
NP_001157412.1,
NP_002854.3
|
| Others |
UniRef100:
UniRef100_P06737
UniRef90:
UniRef90_P06737
UniRef50:
UniRef50_P06737
UniGene:
Hs.282417
CCDS:
CCDS32080.1,
CCDS53894.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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