GBAP (gene)

GBAP1
Identifiers
Aliases	GBAP1 , GBAP, glucosylceramidase beta pseudogene 1, GBA, Beta-GC, GLUC, GC
External IDs	GeneCards: GBAP1; OMA:GBAP1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q22 Start 155,213,821 bp [1] End 155,227,574 bp [1]
Orthologs Species Human Mouse Entrez 2630 n/a Ensembl ENSG00000160766 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) Chr 1: 155.21 – 155.23 Mb n/a PubMed search [2] n/a
Wikidata
View/Edit Human

Glucosidase, beta; acid, pseudogene, also known as GBAP, is a human gene. ^[3]

References

1. GRCh38: Ensembl release 89: ENSG00000160766 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "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.