| Type | Description |
|---|---|
| Definition | galactosidase beta 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-09 11:32:00 | Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with intellectual disabilities in the three families. | 32209057 |
| 2019-07-06 12:50:00 | senescent cells have been detected by senescence associated-b-galactosidase (SA-beta-gal) staining, a procedure that requires enzymatic activity, which is lost in fixed tissue samples. We previously demonstrated that loss of lamin B1 is a novel marker to identify senescent cells. | 29142250 |
| 2019-03-09 12:50:00 | the beta-d-galactosidase, beta-d-glucuronidase and alpha-l-fucosidase activities in serums from hemolyzed blood, were determined. | 29885630 |
| 2018-09-08 11:58:00 | We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of beta-galactosidase activity. We identified the first two cases by whole-exome sequencing, and then the other six cases by direct sequencing of GLB1 with enzyme analysis. The recurrent mutation, p.D448V in GLB1, accounted for 50.0% of total alleles in our cohort. | 29439846 |
| 2018-04-28 10:34:00 | we showed for the first time the specific alteration of beta-Galctosidase (Gal), beta-Galactosylcerebrosidase (GALC) in MCI patients. It is notable that in above peripheral biological samples the lysosomes are more sensitive to AD cellular metabolic alteration when compared to levels of Abeta-peptide or Tau proteins, similar in both AD groups analyzed | 28825628 |
| Type | IDs |
|---|---|
| Synonymous | EBP, ELNR1, MPS4B |
| Gene |
UniProtKB-ID:
BGAL_HUMAN,
B7Z6Q5_HUMAN
UniprotKB:
P16278,
B7Z6Q5
UniParc:
UPI0000EE2969,
UPI0000E9BBE8,
UPI0000E9BBE7,
UPI00019152E6
EMBL:
M27507,
AK300021,
BT007147,
M34423,
M22590,
BC007493,
AK312988,
AC112211,
M27508,
AK300753
Ensembl:
ENSG00000170266
KO:
hsa:2720
|
| Nucleutide sequences |
EMBL-CDS:
AAA51823.1,
AAP35811.1,
BAH13196.1,
AAA51822.1,
AAA51819.1,
BAG35825.1,
AAH07493.1,
AAA35599.1,
BAH13341.1
Ensembl_TRS:
ENST00000399402,
ENST00000307363,
ENST00000445488
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000306920,
ENSP00000393377,
ENSP00000382333
RefSeq:
NP_001303969.2,
NP_001129074.2,
NP_001073279.2,
NP_000395.3
|
| Others |
UniRef100:
UniRef100_P16278,
UniRef100_B7Z6Q5
UniRef90:
UniRef90_P16278
UniRef50:
UniRef50_P16278
UniGene:
Hs.443031
CCDS:
CCDS43061.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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