Gene: HCFC1R1

Alternate names for this Gene: HPIP

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: host cell factor C1 regulator 1

Type of Gene: protein-coding

Gene: THOC6

Alternate names for this Gene: WDR58|fSAP35

Gene Summary: This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: THO complex 6

Type of Gene: protein-coding

rs763344375 in HCFC1R1;THOC6 gene and Dysmorphic features PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

rs763344375 in HCFC1R1;THOC6 gene and Multiple congenital anomalies PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

rs587777030 in HCFC1R1;THOC6 gene and THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.