protein
PHD finger protein 6
Gene
PHF6
Organism
Homo sapiens(9606)
Length
365 aa
Mass
41,290 Da
PHD finger protein 6 (PHF6) is a transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA transcription (UniProt: Q8IWS0). The protein is 365 amino acids in length with a molecular mass of approximately 41 kDa.
PHF6 is implicated in Boerjeson-Forssman-Lehmann syndrome (BFLS), an X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, and obesity with marked gynecomastia. The condition also presents with characteristic facial features including swelling of subcutaneous facial tissue, narrow palpebral fissures, and large ears.
PHF6 is classified as a syndromic autism-associated gene (SFARI Cat S), indicating involvement in autism as part of a broader genetic syndrome rather than isolated autism spectrum disorder. The transcriptional regulation of ribosomal RNA by PHF6 may contribute to the intellectual disability and neurodevelopmental phenotypes observed in BFLS.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription
Disease associations
Boerjeson-Forssman-Lehmann syndromeBFLS
An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.
Sources
Last updated 5/6/2026, 5:24:33 AM