GBAP (gene)

GBAP1
Identifiers
Aliases	GBAP1 , GBAP, glucosylceramidase beta pseudogene 1, GBA, Beta-GC, GLUC, GC
External IDs	GeneCards: GBAP1
Orthologs
	2630
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	Wikidata
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Last updated December 21, 2020

Glucosidase, beta; acid, pseudogene, also known as GBAP, is a human gene.^[2]

Related Research Articles

Gaucher's disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase, which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.

β-Glucocerebrosidase is an enzyme with glucosylceramidase activity that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes. It is localized in the lysosome, where it remains associated with the lysosomal membrane. β-Glucocerebrosidase is 497 amino acids in length and has a molecular weight of 59,700 Daltons.

Dual specificity protein kinase CLK2 is an enzyme that in humans is encoded by the CLK2 gene.

Thrombospondin-3 (TSP3) is a protein that in humans is encoded by the THBS3 gene.

60S ribosomal protein L19 is a protein that in humans is encoded by the RPL19 gene.

28S ribosomal protein L42, mitochondrial is a protein that in humans is encoded by the MRPL42 gene.

39S ribosomal protein L15, mitochondrial is a protein that in humans is encoded by the MRPL15 gene.

Metaxin 1, also known as MTX1, is a protein which in humans is encoded by the MTX1 gene.

28S ribosomal protein S7, mitochondrial is a protein that in humans is encoded by the MRPS7 gene.

Secretory carrier-associated membrane protein 3 is a protein that in humans is encoded by the SCAMP3 gene.

39S ribosomal protein L22, mitochondrial is a protein that in humans is encoded by the MRPL22 gene.

Interferon alpha-10 is a protein that in humans is encoded by the IFNA10 gene.

39S ribosomal protein L39, mitochondrial is a protein that in humans is encoded by the MRPL39 gene.

28S ribosomal protein S24, mitochondrial is a protein that in humans is encoded by the MRPS24 gene.

28S ribosomal protein S16, mitochondrial is a protein that in humans is encoded by the MRPS16 gene.

28S ribosomal protein S17, mitochondrial is a protein that in humans is encoded by the MRPS17 gene.

39S ribosomal protein L32, mitochondrial is a protein that in humans is encoded by the MRPL32 gene.

Interferon alpha-6 is a protein that in humans is encoded by the IFNA6 gene.

28S ribosomal protein S21, mitochondrial is a protein that in humans is encoded by the MRPS21 gene.

Cytosolic beta-glucosidase, also known as cytosolic beta-glucosidase-like protein 1, is a beta-glucosidase enzyme that in humans is encoded by the GBA3 gene.

References

↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: GBAP glucosidase, beta; acid, pseudogene".

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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[1] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-2] "Entrez Gene: GBAP glucosidase, beta; acid, pseudogene".

[1]

[2]

GBAP (gene)

Related Research Articles

References

Further reading