Gene: FNTB

Alternate names for this Gene: FPTB

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3

Description of this Gene: farnesyltransferase, CAAX box, beta

Type of Gene: protein-coding

Gene: CHURC1-FNTB

Alternate names for this Gene: FNTB|FTase-beta

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring CHURC1 (churchill domain containing 1) and FNTB (farnesyltransferase, CAAX box, beta) on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3

Description of this Gene: CHURC1-FNTB readthrough

Type of Gene: protein-coding

Gene: MAX

Alternate names for this Gene: bHLHd4

Gene Summary: The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3

Description of this Gene: MYC associated factor X

Type of Gene: protein-coding

rs11627485 in FNTB;CHURC1-FNTB;MAX gene and Corpuscular Hemoglobin Concentration Mean PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs11627485 in FNTB;CHURC1-FNTB;MAX gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11627485 in FNTB;CHURC1-FNTB;MAX gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11627485 in FNTB;CHURC1-FNTB;MAX gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11627485 in FNTB;CHURC1-FNTB;MAX gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.