Gene
GLDC
glycine decarboxylase
- HGNC 4313↗(opens in a new tab)
- Ensembl gene ENSG00000178445↗(opens in a new tab)
- NCBI Gene 2731↗(opens in a new tab)
Summary
- Cytogenetic location
- 9p24.1
- Coordinates
- Chromosome 9: 6,532,467–6,645,729 (GRCh38)
- Exons
- 25 exons across 113.3 kb
- Protein
- 1,020 amino acids
- Also known as
- GCSP, NKH
- MANE Select transcript
- ENST00000321612.8NM_000170.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
This page as data
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Disorders of Glycine & Serine Metabolism
- Glycine Encephalopathy (Non-Ketotic Hyperglycinemia)Autosomal recessive
Caused by variants in GLDC, AMT or GCSH (and, in an atypical form, SLC6A9), which cause high glycine in the brain and can lead to seizures, low muscle tone and developmental problems.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
▶Actionability
Knowing allows treatment with sodium benzoate and dextromethorphan, which can reduce seizures in some forms.
How GLDC is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.8 kb of the gene's 113.3 kb; 3,063 of those bases code for the protein.
Sequencing GLDC
453
positions in GLDC where ClinVar classes a change as pathogenic or likely pathogenic
43 of them (9.5%) fall in regions short reads find hard.
- Low mappabilityRegions where 100 bp or 250 bp reads cannot be placed uniquely. (43 sites)
A whole genome covers all 113.3 kb of GLDC, introns included, not only the 3.8 kb of exons.
Genes linked to the same conditions
Traits linked to GLDC
The Human Phenotype Ontology lists these as features of the rare conditions GLDC can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.18-e609d43e.
Cite this page
Dante Labs. (n.d.). GLDC gene: glycine decarboxylase. Retrieved 18 October 2026, from https://dantelabs.com/genes/gldc
Dante Labs. GLDC gene: glycine decarboxylase [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/gldc
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