HMGCLL1
3-Hydroxy-3-Methylglutaryl-CoA Lyase Like 1
Gene Information Card
| Symbol | HMGCLL1 |
|---|---|
| Full Name | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Like 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 54511 ncbi.nlm.nih.gov/gene/54511 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8N5Z0 |
| OMIM ID | 617790 |
| HGNC ID | 24991 |
| Aliases | HMGCL-like, HMGCL1, bA371P15.1 |
Description
HMGCLL1 (3-hydroxy-3-methylglutaryl-CoA lyase like 1) is a protein-coding gene that encodes a mitochondrial enzyme with sequence similarity to HMG-CoA lyase. The enzyme catalyzes the cleavage of 3-hydroxy-3-methylglutaryl-CoA to acetoacetate and acetyl-CoA, playing a role in ketogenesis and leucine catabolism. HMGCLL1 is expressed in various tissues, with highest levels in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Loss-of-function mutations in HMGCLL1 may impair ketogenesis and leucine metabolism, leading to metabolic acidosis and hypoglycemia. | ClinVar, OMIM |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome | Not directly associated; differential diagnosis for HMGCL deficiency. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 4.1 | Low |
| Brain | 2.0 | Low |
| Skeletal Muscle | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.8 | Embryonic kidney cell line |
| K562 | 3.4 | Chronic myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.109C>T (p.Arg37Ter) | Nonsense | Rare | Loss of function |
| c.287G>A (p.Arg96Gln) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • 3-hydroxy-3-methylglutaryl-CoA lyase activity (GO:0003854) | • mitochondrion (GO:0005739) |
| • fatty acid metabolic process (GO:0006631) | • leucine catabolic process (GO:0009083) |
| • ketone body biosynthetic process (GO:0046951) |
Pathways
• Ketogenesis (Reactome: R-HSA-77111)
• Leucine degradation (Reactome: R-HSA-70895)
Protein Summary
The HMGCLL1 protein is a 339-amino acid mitochondrial enzyme that catalyzes the conversion of 3-hydroxy-3-methylglutaryl-CoA to acetoacetate and acetyl-CoA. It shares 60% sequence identity with HMGCL and is involved in ketone body production and leucine metabolism. The protein is expressed in liver and kidney, and mutations may contribute to metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMGCLL1 Knockout HEK293 Cell Line | EDJ-KQ11447 | Human | 54511 | Details Get a Quote |
| HMGCLL1 Knockout HeLa Cell Line | EDJ-KQ56427 | Human | 54511 | Details Get a Quote |
| HMGCLL1 Knockout A-549 Cell Line | EDJ-KQ64923 | Human | 54511 | Details Get a Quote |
| HMGCLL1 Knockout HCT 116 Cell Line | EDJ-KQ73364 | Human | 54511 | Details Get a Quote |
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