Gene: DUPD1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: KAT6B

Alternate names for this Gene: GTPTS|MORF|MOZ2|MYST4|ZC2HC6B|qkf|querkopf

Gene Summary: The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.2

Description of this Gene: lysine acetyltransferase 6B

Type of Gene: protein-coding

rs199470477 in DUPD1;KAT6B gene and Genitopatellar Syndrome PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 28696035 2017 Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

PMID 25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.

rs199470477 in DUPD1;KAT6B gene and Multiple congenital anomalies PMID 23436491 2013 De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

PMID 29226580 2018 A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

PMID 22715153 2012 The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

PMID 22265014 2012 Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

PMID 28696035 2017 Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

PMID 26334766 2015 A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

PMID 25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.