This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Transcription factors with Perturb-seq knockdown data for MVK. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = MVK upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of MVK, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr12:109,308,986–109,310,221 | 264.5 kb | Distal (>10kb) Multiome | 331 | |
| chr12:109,476,943–109,477,929 | 96.4 kb | Distal (>10kb) Multiome | 911 | |
| chr12:109,573,025–109,574,078 | 218 bp | At TSS Multiome | 1005 | |
| chr12:109,597,611–109,598,240 | 24.1 kb | Distal (>10kb) Multiome HiCAR | 536 | |
| chr12:109,679,688–109,680,306 | 106.3 kb | Distal (>10kb) Multiome | 69 | |
| chr12:109,697,996–109,698,635 | 124.5 kb | Distal (>10kb) Multiome | 115 | |
| chr12:109,713,288–109,715,156 | 139.9 kb | Distal (>10kb) Multiome HiCAR | 793 | |
| chr12:109,717,933–109,718,896 | 144.7 kb | Distal (>10kb) Multiome HiCAR | 199 | |
| chr12:109,737,442–109,738,212 | 164.1 kb | Distal (>10kb) Multiome | 231 | |
| chr12:109,739,699–109,741,057 | 166.4 kb | Distal (>10kb) Multiome | 245 | |
| chr12:109,833,102–109,833,778 | 259.6 kb | Distal (>10kb) Multiome | 217 | |
| chr12:109,845,155–109,845,762 | 271.6 kb | Distal (>10kb) Multiome | 618 |
Genomic view of the MVK locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.