Gene: CHRND
Alternate names for this Gene: ACHRD|CMS2A|CMS3A|CMS3B|CMS3C|FCCMS|SCCMS
Gene Summary: The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: cholinergic receptor nicotinic delta subunit
Type of Gene: protein-coding
Gene: PRSS56
Alternate names for this Gene: MCOP6
Gene Summary: This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos.
Gene is located in Chromosome: 2
Location in Chromosome : 2q37.1
Description of this Gene: serine protease 56
Type of Gene: protein-coding
rs61744404 in
CHRND;PRSS56 gene and
MICROPHTHALMIA, ISOLATED 6
PMID 21850159 2011 Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
PMID 21532570 2011 Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.
PMID 21397065 2011 Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.