GBAP (gene)

GBAP1
Identifiers
AliasesGBAP1, GBAP, glucosylceramidase beta pseudogene 1
External IDsGeneCards: GBAP1
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q22Start155,213,821 bp[1]
End155,227,422 bp[1]
Orthologs
SpeciesHumanMouse
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 Mbn/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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000160766 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:".
  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.


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