GLA - galactosidase, alpha

Human Kidney Gene DataBase

Name

galactosidase, alpha

Symbol

GLA

Aliases

GALA

Gene Product

Category

UniGene

Hs.69089

Reference Sequence

mRNA: NM_000169

OMIM and SNP

OMIM: 301500

Locus

LocusLink: 2717

Chromosome: X

Cytoband: Xq22

Gene Ontology

Expression

Evidence

Mutation in System Syndrom with Kidney Involvment

Sawada K, Mizoguchi K, Hishida A, Kaneko E, Koide Y, Nishimura K, Kimura M Point mutation in the alpha-galactosidase A gene of atypical Fabry diseasewith only nephropathy. Clin Nephrol 1996 May;45(5):289-94.
Van Loo A, Vanholder R, Madsen K, Praet M, Kint J, De Paepe A, Messiaen L, Lameire N, Hasholt L, Sorensen SA, Ringoir S, Van Loo A, Vanholder R, Madsen K, Praet M, Kint J, De Paepe A, Messiaen L, Lameire N, Hasholt L, Sorensen SA, Ringoir S Novel frameshift mutation in a heterozygous woman with Fabry disease andend-stage renal failure. Am J Nephrol 1996;16(4):352-7.
Konoshita T, Mutoh H, Yokoi T, Koni I, Miyamori I, Mabuchi H A missense mutation, A156T, in the alpha-galactosidase A gene causestypical Fabry disease. Clin Nephrol 2001 Mar;55(3):243-7.