PHB2

Chr 12

prohibitin 2

Also known as: BAP, BCAP37, Bap37, PNAS-141, REA, hBAP, p22

NCBI Gene: 11331 ENSG00000215021 UniProt: Q99623 OMIM: 610704

PHB2 encodes prohibitin-2, a multifunctional protein that serves as a mitochondrial chaperone, functions in cell signaling at the plasma membrane, and acts as a transcriptional co-regulator in the nucleus. Mutations cause spastic paraplegia 35, an autosomal recessive disorder characterized by progressive spasticity primarily affecting the lower limbs. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.655), consistent with its essential cellular functions across multiple compartments.

OMIM ResearchSummary from RefSeq, UniProt

Enables obsolete amide binding activity; protein dimerization activity; and sphingolipid binding activity. Involved in several processes, including RIG-I signaling pathway; antiviral innate immune response; and regulation of DNA-templated transcription. Located in several cellular components, including cell surface; mitochondrial membrane; and nuclear matrix. Part of mitochondrial prohibitin complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.66

LOEUF

Mechanism· predicted