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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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