Gene: HEXA-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: HEXA

Alternate names for this Gene: TSD

Gene Summary: This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.

Gene is located in Chromosome: 15

Location in Chromosome : 15q23

Description of this Gene: hexosaminidase subunit alpha

Type of Gene: protein-coding

rs121907964 in HEXA-AS1;HEXA gene and Tay-Sachs Disease PMID 21567908 2011 GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening.

PMID 21967858 2011 Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

PMID 25606403 2014 The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.

PMID 1384323 1992 A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PMID 21796138 2011 Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

PMID 18358410 2008 Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus.

PMID 8445615 1993 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PMID 8490625 1993 Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 2522679 1989 The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

PMID 1301190 1992 Novel Tay-Sachs disease mutations from China.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 14566483 2003 Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

PMID 27682588 2016 Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation.

PMID 1302612 1992 A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

PMID 1837283 1991 Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

PMID 1301189 1992 A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

PMID 7951261 1994 Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

PMID 8757036 1996 Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 9603435 1998 W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

PMID 7837766 1994 Molecular genetics of Tay-Sachs disease in Japan.

PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

PMID 9401008 1997 Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

PMID 2970528 1988 A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

PMID 8581357 1995 GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

PMID 7717398 1995 Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

PMID 9338583 1997 Tay-Sachs disease and HEXA mutations among Moroccan Jews.

PMID 12180151 2003 Eight novel mutations in the HEXA gene.