| Gene Name | GM2A |
|
| Specie | Homo sapiens | |
| Full Name | ganglioside GM2 activator | |
| Also known as | GM2-AP|GM2AP|SAP-3 | |
| Coordinate | chr5:151253185-151270440 | |
| Strand | + | |
| Gene summary | 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] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| GM2AP2 | chr1:171392319-171393227 | + |
Intergenic |
ENSG00000239428 | UCSC |
| GM2AP1 | chr3:145684536-145685953 | + |
Intergenic |
ENSG00000241695 | UCSC |
| >NM_000405.5 |
| GCAGTTAACTCCGCCCTGACCCACCCTTCCCGATGCAGTCCCTGATGCAGGCTCCCCTCCTGATCGCCCTGGGCTTGCTTCTCGCGGCCCCTGCGCAAGCCCACCTGAAAAAGCCATCCCAGCTCAGTAGCTTTTCCTGGGATAACTGTGATGAAGGGAAGGACCCTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCATCGTTCCTGGAAATGTGACCCTCAGTGTCATGGGCAGCACCAGTGTCCCCCTGAGTTCTCCTCTGAAGGTGGATTTAGTTTTGGAGAAGGAGGTGGCTGGCCTCTGGATCAAGATCCCATGCACAGACTACATTGGCAGCTGTACCTTTGAACACTTCTGTGATGTGCTTGACATGTTAATTCCTACTGGGGAGCCCTGCCCAGAGCCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTCAAAGAAGGAACCTACTCACTGCCCAAGAGCGAATTCGTTGTGCCTGACCTGGAGCTGCCCAGTTGGCTCACCACCGGGAACTACCGCATAGAGAGCGTCCTGAGCAGCAGTGGGAAGCGTCTGGGCTGCATCAAGATCGCTGCCTCTCTAAAGGGCATATAACATGGCATCTGCCACAGCAGAATGGAGCGGTGTGAGGAAGGTCCCTTTTCCTCTGTTTTGTGTTTGCCAAGGCCAAACTCCCACTCTCTGCCCCCCTTTAATCCCCTTTCTACAGTGAGTCCACTACCCTCACTGAAAATCATTTTGTACCACTTACATTTTAGGCTGGGGCAAGCAGCCCTGACCTAAGGGAGAATGAGTTGGACAGTTCTTGATAGCCCAGGGCATCTGCTGGGCTGACCACGTTACTCATCCCCGTTAACATTCTCTCTAAAGAGCCTCGTTCATTTCCAAAGCAGTTAAGGAATGGGAACCAGAGTGTTTTAGGACCTGAAGAATCTTTATGACTCTCTCTCTTTCACTCTTTTTTTTTTTTGTCACTAAGTTAAAAGCGAAGTGAGAGTATTAACGTTTTTGTTCTCCTCCGGCCCCCTGTTACAATGAAGGGGCAAAAGTATTTGCTCTTAGTCTATTCCTCCCTTAACTTCTGTGACTAATTTTTATTTCCTTTCTAGATTTGCCCAATTAATACTAGGGTGCAGTGTATCCTGGAGAGGTAGGGTGTGTGGGGGAGGAATCCCTTGGGGGAGATATTAGGAGTGCTCTGTTGTTTACAAACTCAGGTACCCGCAGGGCCTAGCAAGAGACTTAAATGACTGATAAGAACCGTGAGAAACATGTTGCTTCCAGGCTTGATTTCGAtttttcgctttttttttttttgagacagaatctcactttgtcaccaggctggagtgcagtggtgcaatctcacctcactgcaacctccgcctcctgggttcaagcaattctcctgcctcagcctcccaagtagcttggactacaggccctgccaccacgcccggctaatttgtgtatttttagtagagatggggtttcaccatgttggccaggatggtctcgatctcttgacctcgtgatctgtccaccttggccttgcaaagcgctggattacaggcatgagccactacacccagccGATTTTTCCTTTTTGATTAAAGATGCTATTACAATGTAAATATTTCTTACACAGAAAGTCACAGCACATGTGCCCATTGATACAAGGCTGCTGAGGCCTGGTCTCCAGTTGGAAATATAATTAAgggtggcaaggactggagtcagttggagagtgcatagccagtctgtgaagacaactgccagatactggcaatactccagcctggtgacagagtgagactctgtctcaaaaaaaaagtttcaatgtttactcctagagaagccaaaaatccagatttgtatatgaaatcttaccattttaaaagattggcagctaattatttttttaaaaagctgtgcagtgtgatgtgtcccaaacggactggctcatgggtggccacgtcacaacctctgATCTCAGACCGTGCATGCCTTGTCCTCTTAAGACAACTCCTGTGGCACCGTTTCTCCCTCCACAGGGCCAAAGCCATAGTGTCCGGTCCCAAGGACAAGGCTCTTCCAGTGCTAGGAGAGGTATGAGCAGCCTCTCACCTGTGAGCTGTGGGGATCACAAGGCTGCCTGCCTCAGTCTTGGAGTCCTGTTGGGTGAATGAGGCAGATGGGAAAGAGCCTCACCAGCAGCTGCTTTTGGAGCAGGGGTCCAAGGAAGAGAGGGTGGCCTCGACATCAAACTGCCTGGATTTTTCTACCACCCTGTTACATCATAACAACTTCTGAAACACACACCAGCCCTGAGTTCTGGGCTCATTTGAAGCCTGGAATAGCAATAAATCTTTTTAACTTGCGGACAGTTTCCCCTTGCCTTGGCTGCATATTTCACTGATCACATCTCAGGATTTCAAAAGCATTTTTGGGGTGGGGCTCTTTTGGTTGGAAGGGTTTGTTGGAACGGTACAGGTGAGCCGAGGTGATTCCAGGGACGGACCCTTCTGCAGGAGCTTGAGCTTGCTTGTTGTCTCTGCTTCATCGCCATCCAGCTCCCTTGTTTGCTATTTTGCTTTCCATCACATCATGACtgcggagagcaaaaatcacctagtgaccattgaacaggtcccagagacaaaatctttttatctgaggaatttaAaagggagcaaagaccacctggtgactatcaggccatgcagaggcaaaacgccttatttggggaaaattaaaagtaattagactttcctattatctaaagcaggcatctggttccagatttcttttccccgaaaaaaaccttagaagtaactaaaatttctgtacatctccggaatgccatgctgaaactcactgcaaccccacggtcccgctttaaggtccataaatatccctaaggaaaaatccaccgtggtacattcagtcctctcaccgaggtgccccatggcagtcttctgcagcattcttctaatacctttcctttttcaaacctatactgttgttggtgaattctttttaccaacccacgagttgaccacttcccaatgccggggatctgacacctcacctggcaATGACCTCCACAGCCGTTTCCCTCTGTTGGATCTTCCAGCCTTATTCTCAACAGTTCATTTTTAGTTCACATTCTTGACCGAATCTCAGTAGCTCAGTTAATCTTTTTATGTCTGCTCTGCTCTTGGGTCATATGTTCCGTGAGGTTTCTTAGGGGTGGGGGATGAGGAGTTaaaggtggcatcttcaatcgcaggtcaaagcagactttaataaatggtgctgagccaactggaaagccccttggagaaagttgaagttagacctgtacttcacaccatatgcaagaatgaactccatctggatccaggatccaaatgtaagaaaatgaagccatataaatacagaaggaaacgtggtggaaatatccagtggcaacaaaatattgacacatttgactacatgaagataataaaaatgcttagtaaaaacacaataaaatcaaatgactgggagaaaaatttatccagcctatataatagacaaa |