Gene: HPN

Alternate names for this Gene: TMPRSS1

Gene Summary: This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.11

Description of this Gene: hepsin

Type of Gene: protein-coding

Gene: SCN1B

Alternate names for this Gene: ATFB13|BRGDA5|DEE52|EIEE52|GEFSP1

Gene Summary: Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.11

Description of this Gene: sodium voltage-gated channel beta subunit 1

Type of Gene: protein-coding

rs72550247 in HPN;SCN1B gene and ATRIAL FIBRILLATION, FAMILIAL, 13 PMID 19808477 2009 Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation.

rs138450474 in HPN;SCN1B gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.