Gene: UNC13A

Alternate names for this Gene: Munc13-1

Gene Summary: This gene encodes a member of the UNC13 family. UNC13 proteins bind to phorbol esters and diacylglycerol and play important roles in neurotransmitter release at synapses. Single nucleotide polymorphisms in this gene may be associated with sporadic amyotrophic lateral sclerosis.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: unc-13 homolog A

Type of Gene: protein-coding

rs12608932 in UNC13A gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

rs12608932 in UNC13A gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

rs12608932 in UNC13A gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

rs12608932 in UNC13A gene and Amyotrophic Lateral Sclerosis PMID 22959728 2013 Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)).

PMID 19734901 2009 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

PMID 24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

PMID 24234648 2014 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

PMID 27455348 2016 Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

PMID 20801717 2010 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.

PMID 29566793 2018 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

rs12608932 in UNC13A gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 28931804 2017 Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

rs4239633 in UNC13A gene and Benign Prostatic Hyperplasia PMID 30988330 2019 Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.