protein
Zinc finger and BTB domain-containing protein 20
Gene
ZBTB20
Organism
Homo sapiens(9606)
Length
741 aa
Mass
81,083 Da
ZBTB20 is a zinc finger and BTB domain-containing protein that functions as a putative transcription factor (UniProt: Q9HC78). It may participate in hematopoiesis, oncogenesis, and immune responses, and plays a role in postnatal myogenesis through regulation of satellite cell self-renewal.
ZBTB20 is associated with Primrose syndrome (PRIMS), a disorder characterized by macrocephaly, intellectual disability, behavioral disturbance, dysmorphic facial features, ectopic calcifications, enlarged calcified ear auricles, and progressive muscle wasting (UniProt: Q9HC78). The protein's involvement in myogenic processes aligns with the progressive muscular phenotype observed in affected individuals.
ZBTB20 is classified as a syndromic autism-related gene in SFARI (SFARI Cat 2), indicating established evidence for involvement in syndromic autism or autism-associated neurodevelopmental disorders. This classification reflects the intellectual disability and behavioral features characteristic of Primrose syndrome and its overlap with autism spectrum presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
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
May be a transcription factor that may be involved in hematopoiesis, oncogenesis, and immune responses (PubMed:11352661). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity)
Disease associations
Primrose syndromePRIMS
A disease characterized by macrocephaly, intellectual disability, disturbed behavior, dysmorphic facial features, ectopic calcifications, large calcified ear auricles, and progressive muscle wasting.
Sources
Last updated 5/6/2026, 5:23:39 AM