Glucosidase, Beta, Acid - CAGS

Glucosidase, Beta, Acid

Alternative Names

GBA
GBA1
Acid Beta-Glucosidase
Beta-Glucosidase, Acid
Beta-GC; Glucocerebrosidase
Glucosylceramidase

Associated Diseases

Gaucher Disease, Perinatal Lethal; Gaucher Disease, Type I; Gaucher Disease, Type II; Gaucher Disease, Type III

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

10,415 bases

No. of Exons

12

No. of isoforms

5

Protein Name

Glucosylceramidase

Molecular Mass

59716 Da

Amino Acid Count

536

Genomic Location

chr1:155,234,448-155,244,862

Gene Map Locus

1q22

Description

The GBA gene codes for the lysosomal enzyme, beta-glucocerebrosidase. This enzyme is responsible for breaking down glucocerebroside, which forms a major part of cell membranes.

Epidemiology in the Arab World

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000157.3:c.1448T>C	Lebanon	chr1:155235252	Likely Pathogenic	Likely Pathogenic, Pathogenic	Gaucher Disease, Type I; Gaucher Disease, Perinatal Lethal	NG_009783.1:g.14446T>C ; NM_000157.3:c.1448T>C; NP_000148.2:p.Leu483Pro	421016	4288
NM_000157.3:c.1483G>C	Lebanon	chr1:155235217	Benign	Benign	Gaucher Disease, Perinatal Lethal	NG_009783.1:g.14481G>C; NM_000157.3:c.1483G>C ; NP_000148.2:p.Ala495Pro	368060	93450
NM_000157.3:c.1497G>C	Lebanon	chr1:155235203	Benign, Likely Benign	Benign, Likely Benign	Gaucher Disease, Perinatal Lethal	NG_009783.1:g.14495G>C ; NM_000157.3:c.1497G>C; NP_000148.2:p.Val499=	1135675	93451
NM_000157.3:c.259C>T	Lebanon	NC_000001.11:g.155239934G>A	Pathogenic	Likely Pathogenic	Gaucher Disease, Type I	NG_009783.1:g.9764C>T ; NM_000157.3:c.259C>T; NP_000148.2:p.Arg87Trp	1141814	4321
NM_000157.3:c.475C>T	Lebanon	chr1:155238630	Pathogenic	Pathogenic	Gaucher Disease, Perinatal Lethal	NG_009783.1:g.11068C>T; NM_000157.3:c.475C>T ; NP_000148.2:p.Arg159Trp	439898	65570
NM_000157.3:c.703T>C	Lebanon	chr1:155238192	Pathogenic	Pathogenic	Gaucher Disease, Perinatal Lethal	NG_009783.1:g.11506T>C; NM_000157.3:c.703T>C ; NP_000148.2:p.Ser235Pro	1064644	21072
NM_000157.3:c.854T>C	Palestine	chr1:155237486		Pathogenic	Gaucher Disease, Type I	NG_009783.1:g.12216T>C ; NM_000157.3:c.854T>C ; NP_000148.2:p.Phe285Ser
NM_000157.4:c.1228C>G	Lebanon	chr1:155235841	Pathogenic	Pathogenic	Gaucher Disease, Type I	NG_009783.1:g.13857C>G; NM_000157.4:c.1228C>G; NP_000148.2:p.Leu410Val	121908314	4332
NM_000157.4:c.1504C>T	Lebanon	chr1:155235196	Pathogenic	Pathogenic	Gaucher Disease, Type III	NG_009783.1:g.14502C>T; NM_000157.4:c.1504C>T; NP_000148.2:p.Arg502Cys	80356771	4295
NM_000157.4:c.160G>A	Palestine	NC_000001.11:g.155240033C>T		Pathogenic	Gaucher Disease, Type II	NG_009783.1:g.9665G>A; NM_000157.4:c.160G>A; NP_000148.2:p.Val54Met	121908302

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External Links

https://medlineplus.gov/genetics/gene/gba/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=GBA

Contributors

Pratibha Nair: 24.11.2020
Pratibha Nair: 22.06.2020
Pratibha Nair: 23.04.2019

Edit History

Sayeeda Hana: 26.09.2021
Pratibha Nair: 24.11.2020
Pratibha Nair: 22.06.2020
Pratibha Nair: 23.04.2019
Sami Bizzari: 23.12.2018
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.