| GBAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | GBAP1, GBAP, glucosylceramidase beta pseudogene 1, GBA, Beta-GC, GLUC, GC | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: GBAP1; OMA:GBAP1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Glucosidase, beta; acid, pseudogene, also known as GBAP, is a human gene.
References
- ^ GRCh38: Ensembl release 89: ENSG00000160766 – Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: GBAP glucosidase, beta; acid, pseudogene".
Further reading
- Beutler E, West C, Gelbart T (1992). "Polymorphisms in the human glucocerebrosidase gene". Genomics. 12 (4): 795–800. doi:10.1016/0888-7543(92)90311-F. PMID 1572652.
- Sorge J, Gross E, West C, Beutler E (1990). "High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease". J. Clin. Invest. 86 (4): 1137–41. doi:10.1172/JCI114818. PMC 296842. PMID 1698821.
- Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E (1990). "A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder". J. Clin. Invest. 85 (1): 219–22. doi:10.1172/JCI114415. PMC 296408. PMID 2295698.
- Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E (1989). "The human glucocerebrosidase gene and pseudogene: structure and evolution". Genomics. 4 (1): 87–96. doi:10.1016/0888-7543(89)90319-4. PMID 2914709.
- Imai K, Nakamura M, Yamada M, Asano A, Yokoyama S, Tsuji S, Ginns EI (1994). "A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells". Gene. 136 (1–2): 365–8. doi:10.1016/0378-1119(93)90497-Q. PMID 8294033.
- Tayebi N, Cushner S, Sidransky E (1996). "Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease". Am. J. Hum. Genet. 59 (3): 740–1. PMC 1914901. PMID 8751878.
- Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E (1997). "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease". Genome Res. 7 (10): 1020–6. doi:10.1101/gr.7.10.1020. PMC 310674. PMID 9331372.
- Martínez-Arias R, Calafell F, Mateu E, Comas D, Andrés A, Bertranpetit J (2001). "Sequence variability of a human pseudogene". Genome Res. 11 (6): 1071–85. doi:10.1101/gr.gr-1677rr. PMC 311081. PMID 11381033.
- Martínez-Arias R, Bertranpetit J, Comas D (2002). "Determination of haploid DNA sequences in humans: application to the glucocerebrosidase pseudogene". DNA Seq. 13 (1): 9–13. doi:10.1080/10425170290019847. PMID 12180141. S2CID 30055342.
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