Galactosylceramidase

Alternative Names

GALC
Galactocerebrosidase

Length

155,846 bases

No. of Exons

No. of isoforms

Protein Name

Galactocerebrosidase

Molecular Mass

77063 Da

Amino Acid Count

685

Genomic Location

chr14:87,933,013-87,993,664

Gene Map Locus

14q31

Description

The galactosylceramidase gene (GALC) encodes a lysosomal enzyme which catabolises degradation of several galactolipids such as galactosylceramide, galactosylsphingosine and galactosyldi-glyceride.

Epidemiology in the Arab World

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Palestine

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000153.4:c.1630G>A	Palestine	chr14:87945593	Pathogenic	Pathogenic	Krabbe Disease	NG_011853.3:g.52971G>A; NM_000153.4:c.1630G>A; NP_000144.2:p.Asp544Asn	387906952	30614
NM_000153.4:c.1796T>G	Palestine	chr14:87941433	Pathogenic	Pathogenic	Krabbe Disease	NG_011853.3:g.57131T>G; NM_000153.4:c.1796T>G; NP_000144.2:p.Ile599Ser	387906953	30615

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Other Reports

Palestine

Oehlmann et al. (1993) localized the gene responsible for Krabbe disease to 14q24.3-q32.1.

External Links

http://ghr.nlm.nih.gov/gene=galc https://www.genecards.org/cgi-bin/carddisp.pl?gene=GALC

Contributors

Ghazi O. Tadmouri: 24.10.2005

Edit History

Sayeeda Hana: 02.09.2020
Pratibha Nair: 15.10.2006
Pratibha Nair: 31.05.2006
Sarah Al-Haj Ali: 26.10.2005

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