GLOD4

Chr 17

glyoxalase domain containing 4

Also known as: C17orf25, CGI-150, HC6, HC71

NCBI Gene: 51031 ENSG00000167699 UniProt: Q9HC38 OMIM: 620650

The protein enables cadherin binding activity and is located in extracellular exosomes and mitochondria. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. This gene is not highly constrained against loss-of-function variants, consistent with a recessive inheritance pattern.

OMIM ResearchSummary from RefSeq

Enables cadherin binding activity. Located in extracellular exosome and mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.59

Clinical Summary— GLOD4

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

53 VUS of 76 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.59LOEUF

pLI 0.000

Z-score -0.30

OE 1.08 (0.74–1.59)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.01Z-score

OE missense 1.00 (0.88–1.13)

168 obs / 168.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.08 (0.74–1.59)

0≤0.351.4

Missense OE?1.00 (0.88–1.13)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 18 / 16.7Missense obs/exp: 168 / 168.3Syn Z: -0.68

ClinVar Variant Classifications

76 submitted variants in ClinVar

ClinVar

Classification Summary

VUS53

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	53	0	53
Likely Benign	2	1	3
Benign	0	0	0
Total	55	1	56

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

61 pathogenic / likely-pathogenic (of 116) ClinVar copy-number / structural variants overlap GLOD4 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →