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GPHRB

Chr 1

golgi pH regulator B

Also known as: GPHR, GPR89, GPR89B, GPR89C, LINC02804, SH120, UNQ192

NCBI Gene: 51463 OMIM: 612806

GPHRB encodes a voltage-gated anion channel that regulates intracellular pH and is located in Golgi membranes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset, characterized by severe developmental delay, refractory seizures, and progressive brain atrophy. This condition represents a severe neurodevelopmental disorder affecting the central nervous system.

OMIM ResearchSummary from RefSeq

Enables voltage-gated monoatomic anion channel activity. Involved in intracellular pH reduction. Located in Golgi cisterna membrane and Golgi-associated vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical Summary— GPHRB

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/GPHRB?content-type=application/json&expand=1

gnomad: Error: Gene not found