| Type | Description |
|---|---|
| Definition | phosphorylase kinase regulatory subunit alpha 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-24 10:04:00 | Study identified a novel mutation in PHKA2 (c.2972C > G, p.G991A) in patients with relatively rare phenotype of GSD IXa, including hypoglycaemia and delayed motor development. | 30925902 |
| 2017-08-12 12:10:00 | Clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having Glycogen storage disease (GSD) type IXa; study detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots. | 28627441 |
| 2016-05-14 12:06:00 | In this study we summarized the PHKA2 mutation spectrum in Korean glycogen storage disease type IX patients and found that the most common mutation type was gross deletion. | 27103379 |
| 2012-11-24 11:04:00 | The present case also represents the first known reported case of liver PhK deficiency with an PHKA2 mutation and liver cirrhosis. | 21857251 |
| 2012-03-17 11:45:00 | We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect | 21911307 |
| Type | IDs |
|---|---|
| Synonymous | GSD9A, PHK, PYK, PYKL, XLG, XLG2 |
| Gene |
UniProtKB-ID:
KPB2_HUMAN
UniprotKB:
P46019
UniParc:
UPI000012DF4B
EMBL:
AF044543,
AF044564,
AF044557,
AF044568,
AF044545,
AF044563,
AF044548,
AF044571,
AF044562,
AF044565,
D38616,
BC014036,
AF044541,
AF044552,
CH471074,
AF044566,
AF044555,
AK289996,
AF044546,
X80497,
AF044567,
AF044544,
Y15154,
AF044572,
AF044556,
AF044559,
AF044542,
AF044549,
AF044540,
AF044547,
AF044569,
AF044554,
AF044553,
AL732509,
AF044558,
AF044551,
AF044570,
AL096700,
X73875,
AF044550,
AF044560,
AF044561
Ensembl:
ENSG00000044446
KO:
hsa:5256
|
| Nucleutide sequences |
EMBL-CDS:
CAA75421.1,
AAH14036.1,
CAA56662.1,
CAA52084.1,
EAW98951.1,
BAA07606.1,
BAF82685.1,
AAD32846.1
Ensembl_TRS:
ENST00000379942
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369274
RefSeq:
XP_006724559.1,
XP_006724561.1,
XP_011543840.1,
XP_011543839.1,
XP_005274605.1,
XP_016885069.1,
NP_000283.1,
XP_005274607.1
|
| Others |
UniRef100:
UniRef100_P46019
UniRef90:
UniRef90_P46019
UniRef50:
UniRef50_P46019
UniGene:
Hs.54941
CCDS:
CCDS14190.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
Institut für Physiologische Chemie |
4 |
| 2 |
University of Antwerp |
3 |
| 3 |
University of Toronto |
2 |
| 4 |
Max Planck Institute of Biochemistry |
2 |
| 5 |
Baylor College of Medicine |
2 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
P J Willems |
6 |
| 2 |
J Hendrickx |
6 |
| 3 |
M W Kilimann |
5 |
| 4 |
J Wade Harper |
3 |
| 5 |
Richard A Gibbs |
3 |