| Type | Description |
|---|---|
| Definition | mannosidase alpha class 2B member 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-12 14:48:00 | A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. Genetic confirmation is obtained with the identification of MAN2B1 mutations. | 31241255 |
| 2016-07-16 10:20:00 | A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA was identified in patients with autosomal-dominant nystagmus. An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus. | 25741867 |
| 2016-03-05 11:55:00 | Our results indicate a correlation between the MAN2B1 genotypes and the cognitive function, upper limb coordination, balance, FVC% and the storage of oligosaccharides in CSF. | 26048034 |
| 2014-12-27 12:16:00 | The results showed that the alpha-mannosidosis patient has compound heterozygous mutations in the MAN2B1 gene | 24353136 |
| 2013-11-16 11:15:00 | MAN2B1 is targeted to the vacuole without passing through the Golgi complex. | 23449646 |
| Type | IDs |
|---|---|
| Synonymous | LAMAN, MANB |
| Gene |
UniProtKB-ID:
MA2B1_HUMAN,
A8K6A7_HUMAN
UniprotKB:
O00754,
A8K6A7
UniParc:
UPI000059D686,
UPI00015DA8DD,
UPI00000559EC
EMBL:
U60896,
U60889,
U60895,
U68567,
U60899,
U60894,
U60885,
U60266,
U60892,
CH471106,
U60898,
U60890,
U60893,
AC010422,
U05572,
U60897,
U60886,
U60888,
AK291572,
U60891,
BC000736,
U60887
Ensembl:
ENSG00000104774
KO:
hsa:4125
|
| Nucleutide sequences |
EMBL-CDS:
AAC51362.1,
EAW84279.1,
AAB03816.1,
AAH00736.1,
AAC34130.1,
AAC50812.1,
BAF84261.1
Ensembl_TRS:
ENST00000221363,
ENST00000456935
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000395473,
ENSP00000221363
RefSeq:
XP_024307286.1,
NP_000519.2,
NP_001166969.1,
XP_005259970.1
|
| Others |
UniRef100:
UniRef100_O00754,
UniRef100_A8K6A7
UniRef90:
UniRef90_O00754
UniRef50:
UniRef50_O00754
UniGene:
Hs.356769,
Hs.657204
CCDS:
CCDS54224.1,
CCDS32919.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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