| Type | Description |
|---|---|
| Definition | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:58:00 | Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. | 32222031 |
| 2020-01-11 12:24:00 | Six novel mutations were identified in GSD III patients. | 31028654 |
| 2018-09-22 10:45:00 | This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene. | 29794575 |
| 2017-06-03 10:08:00 | The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III. | 26984562 |
| 2016-12-17 11:55:00 | Our study establishes HAS2-mediated HA synthesis as a driver of growth of bladder cancer with low AGL and provides preclinical rationale for personalized targeting of HAS2/HA signaling in patients with low amylo-alpha-1-6-glucosidase-4-alpha-glucanotransferase -expressing tumors. | 26490312 |
| Type | IDs |
|---|---|
| Synonymous | GDE |
| Gene |
UniProtKB-ID:
GDE_HUMAN,
A0A0S2A4E4_HUMAN
UniprotKB:
P35573,
A0A0S2A4E4
UniParc:
UPI000049DCA7,
UPI0000178DB5,
UPI00001694CB
EMBL:
AB208867,
CH471097,
AC096949,
U84011,
U84007,
KT001453,
M85168,
BC078663,
U84008,
U84010,
U84009,
AB035443
Ensembl:
ENSG00000162688
KO:
hsa:178
|
| Nucleutide sequences |
EMBL-CDS:
EAW72987.1,
BAA88405.1,
BAD92104.1,
EAW72982.1,
AAB48468.1,
AAB48469.1,
EAW72985.1,
AAB41040.1,
AAB48467.1,
AAH78663.1,
AAB48466.1,
AAB48470.1,
EAW72983.1,
EAW72981.1,
ALN12516.1
Gene_ORFName:
hCG_31497
Ensembl_TRS:
ENST00000370165,
ENST00000370161,
ENST00000361915,
ENST00000294724,
ENST00000370163
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000359180,
ENSP00000359182,
ENSP00000359184,
ENSP00000355106,
ENSP00000294724
RefSeq:
NP_000019.2,
XP_016855990.1,
XP_005270614.1,
NP_000637.2,
NP_000635.2,
NP_000634.2,
NP_000633.2
|
| Others |
UniRef100:
UniRef100_P35573
UniRef90:
UniRef90_P35573
UniRef50:
UniRef50_P35573
UniGene:
Hs.904
CCDS:
CCDS760.1,
CCDS759.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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