Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]
Transcription factors with Perturb-seq knockdown data for GCSH. 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 = GCSH 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 GCSH, 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 |
|---|---|---|---|---|
| chr16:80,803,193–80,805,083 | 291.7 kb | Distal (>10kb) Multiome | 425 | |
| chr16:80,931,920–80,932,686 | 163.9 kb | Distal (>10kb) Multiome | 511 | |
| chr16:81,006,376–81,008,063 | 88.9 kb | Distal (>10kb) Multiome | 1145 | |
| chr16:81,035,394–81,036,490 | 60.3 kb | Distal (>10kb) Multiome | 711 | |
| chr16:81,076,439–81,077,802 | 19.1 kb | Distal (>10kb) Multiome | 982 | |
| chr16:81,083,340–81,084,144 | 12.4 kb | Distal (>10kb) Multiome | 13 | |
| chr16:81,095,766–81,096,892 | 266 bp | At TSS Multiome | 856 | |
| chr16:81,180,983–81,181,563 | 85.2 kb | Distal (>10kb) Multiome | 479 | |
| chr16:81,314,548–81,315,884 | 218.8 kb | Distal (>10kb) Multiome | 933 |
Genomic view of the GCSH 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.