Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | HMGCL | contributors: mct - updated : 22-03-2017 |
HGNC name | 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) |
HGNC id | 5005 |
|
DNA |
TYPE | functioning gene |
STRUCTURE | 23.58 kb 9 Exon(s) |
Genomic sequence alignment details |
---|
10 Kb 5' upstream gene genomic sequence study |
regulatory sequence | cytosine-phosphate-guanine/HTF |
Binding site | |
text structure | |
|
MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
---|
text | two alternative spliced variants, one with skipping of exons 5 and 6 |
|
EXPRESSION |
Type | widely |
tissue |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | pregnancy |
Text | placenta |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
|
mono polymer | homomer , dimer |
HOMOLOGY |
interspecies | ortholog to murine Hmgcl |
ortholog to rattus Hmgcl |
Homologene |
FAMILY | HMG-CoA lyase family |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria,matrix | |
intracellular,cytoplasm,organelle,peroxisome |
basic FUNCTION | |
| |
| |
| |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | aminoacid , lipid/lipoprotein |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | HMGCLD |
related resource | MITOP database |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |
lethal in HMGCL-deficient mice |