SATB1

Chr 3AD

SATB homeobox 1

Also known as: DEFDA, DHDBV, KTZSL

NCBI Gene: 6304 ENSG00000182568 UniProt: Q01826 OMIM: 602075

The protein functions as a transcriptional repressor that binds to AT-rich DNA sequences at matrix attachment regions and recruits chromatin-remodeling factors to regulate gene expression, playing essential roles in T-cell maturation, globin gene switching, and neuronal differentiation. Mutations cause den Hoed-de Boer-Voisin syndrome and developmental delay with dysmorphic facies and dental anomalies through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, and mutations can cause disease predominantly through haploinsufficiency mechanisms.

OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

den Hoed-de Boer-Voisin syndromeMIM #619229

Developmental delay with dysmorphic facies and dental anomaliesMIM #619228

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· G2P