The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Transcription factors with Perturb-seq knockdown data for GAMT. 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 = GAMT 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 GAMT, 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 |
|---|---|---|---|---|
| chr19:1,103,487–1,105,654 | 297.5 kb | Distal (>10kb) Multiome | 849 | |
| chr19:1,112,029–1,112,884 | 289.2 kb | Distal (>10kb) Multiome | 294 | |
| chr19:1,113,014–1,114,139 | 288.0 kb | Distal (>10kb) Multiome | 690 | |
| chr19:1,122,934–1,123,720 | 278.3 kb | Distal (>10kb) Multiome | 231 | |
| chr19:1,173,441–1,174,438 | 227.3 kb | Distal (>10kb) Multiome | 682 | |
| chr19:1,194,370–1,194,985 | 206.9 kb | Distal (>10kb) Multiome | 531 | |
| chr19:1,205,175–1,206,374 | 195.9 kb | Distal (>10kb) Multiome | 746 | |
| chr19:1,237,080–1,238,434 | 163.5 kb | Distal (>10kb) Multiome | 430 | |
| chr19:1,239,513–1,242,539 | 159.8 kb | Distal (>10kb) Multiome | 889 | |
| chr19:1,244,253–1,244,857 | 157.0 kb | Distal (>10kb) Multiome | 590 | |
| chr19:1,247,981–1,252,501 | 150.5 kb | Distal (>10kb) Multiome | 1136 | |
| chr19:1,259,185–1,262,955 | 142.2 kb | Distal (>10kb) Multiome | 1070 | |
| chr19:1,265,280–1,270,235 | 132.3 kb | Distal (>10kb) Multiome | 1171 | |
| chr19:1,274,423–1,276,502 | 125.8 kb | Distal (>10kb) Multiome | 967 | |
| chr19:1,285,317–1,286,108 | 115.8 kb | Distal (>10kb) Multiome | 277 | |
| chr19:1,354,303–1,355,411 | 46.7 kb | Distal (>10kb) Multiome | 688 | |
| chr19:1,383,122–1,384,333 | 17.9 kb | Distal (>10kb) Multiome | 1228 | |
| chr19:1,401,101–1,401,839 | 1 bp | At TSS Multiome | 540 | |
| chr19:1,406,589–1,408,783 | 5.9 kb | Proximal (<10kb) Multiome | 911 | |
| chr19:1,415,008–1,415,721 | 14.0 kb | Distal (>10kb) Multiome | 597 | |
| chr19:1,437,988–1,438,998 | 36.8 kb | Distal (>10kb) Multiome | 1076 | |
| chr19:1,444,785–1,447,383 | 43.7 kb | Distal (>10kb) Multiome | 797 | |
| chr19:1,455,191–1,456,421 | 54.3 kb | Distal (>10kb) Multiome | 491 | |
| chr19:1,468,941–1,469,903 | 67.7 kb | Distal (>10kb) Multiome | 242 | |
| chr19:1,470,088–1,471,597 | 69.2 kb | Distal (>10kb) Multiome | 544 | |
| chr19:1,478,772–1,479,848 | 77.8 kb | Distal (>10kb) Multiome | 857 | |
| chr19:1,489,566–1,491,829 | 89.3 kb | Distal (>10kb) Multiome | 836 | |
| chr19:1,507,230–1,508,699 | 106.6 kb | Distal (>10kb) Multiome | 596 | |
| chr19:1,512,960–1,513,686 | 111.6 kb | Distal (>10kb) Multiome | 541 | |
| chr19:1,523,798–1,524,624 | 122.5 kb | Distal (>10kb) Multiome | 263 | |
| chr19:1,566,277–1,568,916 | 165.2 kb | Distal (>10kb) Multiome | 748 | |
| chr19:1,592,085–1,593,444 | 191.2 kb | Distal (>10kb) Multiome | 883 | |
| chr19:1,604,859–1,606,501 | 204.1 kb | Distal (>10kb) Multiome | 902 | |
| chr19:1,651,519–1,653,514 | 251.4 kb | Distal (>10kb) Multiome | 909 |
Genomic view of the GAMT 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.