GANC - glucosidase alpha, neutral C Gene

Homo sapiens

Gene ID: 2595 | Gene type: protein coding

About GANC

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:42,273,201-42,353,666 (from NCBI)

This gene has 13 transcripts (splice variants), 207 orthologues and 6 paralogues. Ubiquitous expression in lung (RPKM 6.2), testis (RPKM 3.4) and 25 other tissues.

Summary

Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This Enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key Enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]

GANC Products(9)

mRNA	Protein	Name
NM_001301409.2	NP_001288338.1	neutral alpha-glucosidase C isoform 2
NM_001301410.2	NP_001288339.1	neutral alpha-glucosidase C isoform 3
NM_001393928.1	NP_001380857.1	neutral alpha-glucosidase C isoform 1
NM_001393929.1	NP_001380858.1	neutral alpha-glucosidase C isoform 1
NM_001393930.1	NP_001380859.1	neutral alpha-glucosidase C isoform 3
NM_001393931.1	NP_001380860.1	neutral alpha-glucosidase C isoform 3
NM_001393932.1	NP_001380861.1	neutral alpha-glucosidase C isoform 3
NM_001393933.1	NP_001380862.1	neutral alpha-glucosidase C isoform 3
NM_198141.3	NP_937784.2	neutral alpha-glucosidase C isoform 1

GANC Protein Structure

Gal_mutarotas_2

Glyco_hydro_31

0
200
400
600
800
914 a.a.

Protein Preferred Names

Protein Names

neutral alpha-glucosidase C

Related Diseases

Diseases

Alias

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u	Lgmd2u
MDDGC7	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20
Lgmdr20	Muscular Dystrophy, Limb-Girdle, Type 2u
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency	Muscular Dystrophy Limb-Girdle Type 2u
Muscular Dystrophy-Dystroglycanopathy Type C7	Ispd-Related Limb-Girdle Muscular Dystrophy R20
Ispd-Related Lgmd R20	Lgmd Type 2u
Limb-Girdle Muscular Dystrophy Type 2u	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7
Dystrophy, Muscular, Dystroglycanopathy, Type C7

Muscular Dystrophy-Dystroglycanopathy , Type C, 14

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t	Lgmd2t
MDDGC14	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19
Lgmdr19	Muscular Dystrophy Limb-Girdle Type 2t
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related	Muscular Dystrophy, Limb-Girdle, Type 2t
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related	Muscular Dystrophy-Dystroglycanopathy Type C14
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Gmppb-Related Lgmd R19
Lgmd Type 2t	Limb-Girdle Muscular Dystrophy Type 2t
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14	Dystrophy, Muscular, Limb-Girdle, Type 2t

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p	Lgmd2p
MDDGC9	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16
Lgmdr16	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related
Muscular Dystrophy, Limb-Girdle, Type 2p	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related
Muscular Dystrophy-Dystroglycanopathy Type C9	Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Alpha-Dystroglycan-Related Lgmd R16	Lgmd Type 2p
Limb-Girdle Muscular Dystrophy Type 2p	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9
Muscular Dystrophy Limb-Girdle Type 2p	Dystrophy, Muscular, Limb-Girdle, Type 2p

Glycogen Storage Disease Ii

Pompe Disease	Glycogen Storage Disease Type Ii
Acid Maltase Deficiency	Gsd Ii
Gaa Deficiency	Alpha-1,4-Glucosidase Deficiency
Glycogenosis Type Ii	GSD2
Acid Alpha-Glucosidase Deficiency	Amd
Glycogen Storage Disease, Type Ii	Pompe'S Disease
Glycogen Storage Disease Type 2	Cardiomegalia Glycogenica Diffusa
Acid Maltase Deficiency Disease	Deficiency Of Alpha-Glucosidase
Glycogenosis, Generalized, Cardiac Form	Deficiency Of Glucoamylase
Deficiency Of Maltase	Generalized Glycogenosis
Glycogenosis, Type 2	Lysosomal Alpha-1,4-Glucosidase Deficiency
Glucosidase Acid-1,4-Alpha Deficiency	Aglucosidase Alfa
Deficiency Of Lysosomal Alpha-Glucosidase	Glycogen Storage Disease Due To Acid Maltase Deficiency
Alpha-1,4-Glucosidase Acid Deficiency	Gsd Due To Acid Maltase Deficiency
Gsd Type 2	Gsd Type Ii
Glycogenosis Due To Acid Maltase Deficiency	Glycogenosis Type 2
Glycogen Storage Disease 2	Cardiomegalia Glycogenica
Glycogenosis Generalized Cardiac Form	Glycogenosis Ii
Gsd-Ii	Storage Disease, Glycogen, Type Ii
Generalized Glycogen Storage Disease Of Infants	Cardiac Form Of Generalized Glycogenosis

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Lgmd1g	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
LGMDD3	Muscular Dystrophy, Limb-Girdle, Type 1g
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3	Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy Limb-Girdle Type 1g	Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3
Hnrnpdl-Related Lgmd D3	Lgmd Type 1g
Limb-Girdle Muscular Dystrophy Type 1g	Limb-Girdle Muscular Dystrophy 1g
Dystrophy, Muscular, Limb-Girdle, Type 1g

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05271	GANC Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GANC	MGD	MGI:1923301
Felis catus	GANC	VGNC	VGNC:104396
Rattus norvegicus	GANC	RGD	RGD:2660
Bos taurus	GANC	VGNC	VGNC:29246
Canis familiaris	GANC	VGNC	VGNC:41107