CTH

Chr 1

cystathionine gamma-lyase

Also known as: CGL, CSE

NCBI Gene: 1491ENSG00000116761UniProt: P32929

This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCystathioninuria

Clinical highlights

Gene-disease validity (ClinGen)
cystathioninuria · ARDefinitivesufficient evidence for diagnostic panels
2
Active trials
212
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.72
OE 0.62 (0.41–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.41Z-score
OE missense 0.92 (0.82–1.03)
204 obs / 221.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.41–0.96)
0≤0.351.4
Missense OE?0.92 (0.82–1.03)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 15 / 24.1Missense obs/exp: 204 / 221.3Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CTH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients