Gene: CHRNE

Alternate names for this Gene: ACHRE|CMS1D|CMS1E|CMS2A|CMS4A|CMS4B|CMS4C|FCCMS|SCCMS

Gene Summary: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: cholinergic receptor nicotinic epsilon subunit

Type of Gene: protein-coding

Gene: GP1BA

Alternate names for this Gene: BDPLT1|BDPLT3|BSS|CD42B|CD42b-alpha|DBPLT3|GP1B|GPIbA|GPIbalpha|VWDP

Gene Summary: Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: glycoprotein Ib platelet subunit alpha

Type of Gene: protein-coding

rs121908065 in CHRNE;GP1BA gene and BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT PMID 11222377 2001 Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

rs121908065 in CHRNE;GP1BA gene and Bernard-Soulier Syndrome PMID 7873390 1995 A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).

PMID 10089893 1999 Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.

PMID 7819107 1994 Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.

PMID 9639514 1998 Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.

PMID 7690774 1993 Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.

PMID 1730088 1992 Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.

PMID 7819107 1994 Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.

rs6065 in CHRNE;GP1BA gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs553749201 in CHRNE;GP1BA gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2243086 in CHRNE;GP1BA gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

rs553749201 in CHRNE;GP1BA 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.

PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.