Aliases: HEL-215, HEL-S-54e, PHB
Chromosome No: 17
Chromosome Band: 17q21.33
Genetic Category: Genetic association
ASD Reports: 1
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 0
Evidence score: null
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Relevance to Autism
Analysis of genome-wide assocation study (GWAS) data from the Autism Genome Project (AGP) identified a SNP within the sixth intron of the PHB1 gene that significantly associated with ADI-R item 69 ('repetitive use of objects or interest in parts of objects'); this SNP resides in the promoter of the PHB1 gene and was shown to be significantly associated with thalamic volume (PHB1 is strongly expressed in the thalamus from prenatal to postnatal stages of development).
Molecular Function
This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' UTR, which is proposed to function as a trans-acting regulatory RNA.
External Links
