| Type | Description |
|---|---|
| Definition | 3-hydroxy-3-methylglutaryl-CoA lyase |
| Date | Results | Publications |
|---|---|---|
| 2019-07-06 10:12:00 | The expression of HMGCL was silenced in nasopharyngeal carcinoma tissue. Downregulation of HMGCL in nasopharyngeal carcinoma was associated with low intracellular beta-hydroxybutyrate (beta-HB) production, thereby reducing reactive oxygen species generation. | 28931870 |
| 2017-07-08 12:42:00 | Data suggest that HMGCS1 (HMG-CoA synthase 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon cancer cells. (BRAF = proto-oncogene protein B-raf) | 28468827 |
| 2016-12-17 11:26:00 | The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly. | 25708061 |
| 2016-01-30 10:59:00 | this is the first study describing HMGCL deficiency caused by uniparental disomy. | 25872961 |
| 2014-03-15 10:41:00 | This efficient UPLC-MS/MS assay permits rapid and high sensitive determination of HMGCR enzyme activity, tracing potential alterations in cholesterol biosynthesis. | 24333427 |
| Type | IDs |
|---|---|
| Synonymous | HL |
| Gene |
UniProtKB-ID:
HMGCL_HUMAN
UniprotKB:
P35914
UniParc:
UPI000012CA36,
UPI000047EEB4,
UPI00035082DE
EMBL:
CR456884,
FJ472654,
BC010570,
AK300733,
AK313869,
AL031295,
L07033,
AH003700,
GU433941,
CH471134,
AL590728,
BT009792
Ensembl:
ENSG00000117305
KO:
hsa:3155
|
| Nucleutide sequences |
EMBL-CDS:
BAG62406.1,
ADD21697.1,
AAB19099.1,
ACK58684.1,
AAA92733.1,
AAH10570.1,
BAG36597.1,
EAW95094.1,
AAP88794.1,
CAG33165.1
Ensembl_TRS:
ENST00000436439,
ENST00000374490
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000389281,
ENSP00000363614
RefSeq:
NP_000182.2,
NP_001159531.1
|
| Others |
UniRef100:
UniRef100_P35914
UniRef90:
UniRef90_P35914
UniRef50:
UniRef50_P35914
UniGene:
Hs.533444
CCDS:
CCDS243.1,
CCDS53279.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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