FAM120B

Chr 6

family with sequence similarity 120 member B

Also known as: CCPG, KIAA1838, PGCC1, SAN1, dJ894D12.1

NCBI Gene: 84498 ENSG00000112584 UniProt: Q96EK7 OMIM: 612266

The protein functions as a transactivator of PPARG and ESR1, playing a role in adipogenesis through PPARG activation. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in fat cell differentiation and peroxisome proliferator activated receptor signaling pathway. Predicted to be active in nucleus. [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

0.75

LOEUF

Mechanism· predicted