| Type | Description |
|---|---|
| Definition | lanosterol synthase |
| Date | Results | Publications |
|---|---|---|
| 2020-11-28 13:16:00 | The Polymorphism rs2968 of LSS Gene Confers Susceptibility to Age-Related Cataract. | 32877255 |
| 2020-05-30 11:45:00 | Study describes identification of novel mutation 1885T>A (p.Trp629Arg) in the LSS gene in the squalene cyclase, C-terminal domain associated with hypotrichosis 14 in a Chinese family. | 31322293 |
| 2020-05-16 11:02:00 | Study identified two patients with novel biallelic LSS mutations who exhibited congenital hypotrichosis and midline anomalies but did not have cataracts. Epidermis-specific Lss knockout mice showed neonatal lethality due to dehydration, indicating that LSS could be involved in skin barrier integrity. Knockout of Lss in the epidermis caused hypotrichosis in adult mice. Lens-specific Lss knockout mice had cataracts. | 32101538 |
| 2020-03-28 11:12:00 | Investigated lanosterol synthase as a possible target for treatment of glioma. | 30923116 |
| 2020-02-08 10:12:00 | In the cholesterol biosynthesis pathway, lanosterol synthase leads to the cyclization of (S)-2,3-oxidosqualene into lanosterol. Our data suggest LSS as a major gene causing a rare recessive neuroectodermal syndrome. | 30723320 |
| Type | IDs |
|---|---|
| Synonymous | CTRCT44, HYPT14, OSC |
| Gene |
UniProtKB-ID:
LSS_HUMAN,
B2R694_HUMAN
UniprotKB:
P48449,
B2R694
UniParc:
UPI0000EE4B8D,
UPI00004DE9B6,
UPI00017505A3,
UPI000012A14D
EMBL:
CH471079,
AJ239029,
AJ239023,
AK296313,
AJ239024,
BC035638,
AK226141,
AJ239028,
S81221,
AP001469,
AJ239030,
AJ239026,
AJ239031,
AJ239027,
AP001468,
AJ239022,
X87809,
D63807,
AK312489,
AJ239025,
U22526,
AJ239021
Ensembl:
ENSG00000160285
KO:
hsa:4047
|
| Nucleutide sequences |
EMBL-CDS:
EAX09302.1,
EAX09303.1,
CAA61078.1,
CAB42828.1,
EAX09301.1,
AAB36220.1,
BAA09875.1,
EAX09299.1,
BAG59011.1,
AAC50184.1,
AAH35638.1,
BAG35391.1
Ensembl_TRS:
ENST00000522411,
ENST00000356396,
ENST00000397728,
ENST00000457828
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348762,
ENSP00000429133,
ENSP00000380837,
ENSP00000409191
RefSeq:
NP_002331.3,
NP_001138908.1,
NP_001138909.1,
NP_001001438.1
|
| Others |
UniRef100:
UniRef100_P48449,
UniRef100_B2R694
UniRef90:
UniRef90_P48449
UniRef50:
UniRef50_P48449
UniGene:
Hs.596543
CCDS:
CCDS46654.1,
CCDS54489.1,
CCDS13733.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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