This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009].
The following GM2A gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the GM2A cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM834780.1, X61095.1 and AC008385.7. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_000405.4.
Transcript Variant: This variant (1) encodes the longer isoform (1).
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.
##Evidence-Data-START##
Transcript exon combination :: SRR1803615.27033.1, SRR1803617.237572.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000357164.4/ ENSP00000349687.3
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM834780.1, X61095.1 and AC008385.7. This sequence is a reference standard in the RefSeqGene project. On May 24, 2008 this sequence version replaced NM_000405.3.
Transcript Variant: This variant (1) encodes the longer isoform (1).
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.
##Evidence-Data-START##
Transcript exon combination :: SRR1660807.78017.1, SRR1803617.277012.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC008385.7. On May 31, 2019 this sequence version replaced NM_001167607.1.
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on 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.
##Evidence-Data-START##
Transcript exon combination :: AK298867.1, DC366588.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC008385.7.
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on 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.
##Evidence-Data-START##
Transcript exon combination :: AK298867.1, DC366588.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
User Manual
NM_000405.5
