GANC - glucosidase alpha, neutral C Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2595

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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