GBAP

GBAP1
Mã định danh
Danh pháp	GBAP1, GBAP, glucosylceramidase beta pseudogene 1, GBA, Beta-GC, GLUC, GC
ID ngoài	GeneCards: GBAP1
Gen cùng nguồn
Loài	Người	Chuột
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
Vị trí gen (UCSC)	n/a	n/a
PubMed		n/a
Wikidata
Xem/Sửa Người

Glucosidase, beta; axit, gen giả (tiếng Anh: Glucosidase, beta; acid, pseudogene), còn được gọi là GBAP, là gen ở người.

Đọc thêm

• 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.167701. 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.