||ORF Nucleotide Sequence (Length: 1590bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||beta-hexosaminidase subunit alpha preproprotein
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC356933.1, BC018927.2 and
This sequence is a reference standard in the RefSeqGene project.
On May 30, 2008 this sequence version replaced gi:119395761.
Summary: This gene encodes the alpha subunit of the lysosomal
enzyme beta-hexosaminidase that, together with the cofactor GM2
activator protein, catalyzes the degradation of the ganglioside
GM2, and other molecules containing terminal N-acetyl hexosamines.
Beta-hexosaminidase is composed of two subunits, alpha and beta,
which are encoded by separate genes. Both beta-hexosaminidase alpha
and beta subunits are members of family 20 of glycosyl hydrolases.
Mutations in the alpha or beta subunit genes lead to an
accumulation of GM2 ganglioside in neurons and neurodegenerative
disorders termed the GM2 gangliosidoses. Alpha subunit gene
mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I).
[provided by RefSeq, Jul 2009].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: M13520.1, CR627386.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: complete on the 3' end.