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SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000023 Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10
NM_001135697 Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_005257574 PREDICTED: Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $449.00 14
XM_006722014 PREDICTED: Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol SGCA
Entrez Gene ID 6442
Full Name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Synonyms 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin
General protein information
Preferred Names
alpha-sarcoglycan
Names
alpha-sarcoglycan
50DAG
50kD DAG
alpha-SG
dystroglycan-2
50 kDa dystrophin-associated glycoprotein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q21

Summary This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].
Disorder

MIM: 600119

Muscular dystrophy, limb-girdle, type 2D, 608099 (3); Adhalinopathy,

mRNA Protein Product Sequence Price Select
NM_000023, 208973224 NP_000014, 4506911 alpha-sarcoglycan isoform 1 precursor ORF Sequence $269.00
NM_001135697, 208973225 NP_001129169, 208973226 alpha-sarcoglycan isoform 2 precursor ORF Sequence $300.00
XM_005257574, 530412661 XP_005257631, 530412662 alpha-sarcoglycan isoform X1 ORF Sequence $300.00
XM_006722014, 578831242 XP_006722077, 578831243 alpha-sarcoglycan isoform X2 ORF Sequence $400.00
KEGG
hsa05416Viral myocarditis
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
WikiPathways
WP2118Arrhythmogenic right ventricular cardiomyopathy
Homo sapiens (human)SGCANP_000014.1
Pan troglodytes (chimpanzee)SGCAXP_523792.2
Macaca mulatta (Rhesus monkey)SGCAXP_001092850.1
Canis lupus familiaris (dog)SGCAXP_005624692.1
Bos taurus (cattle)SGCANP_001013420.1
Mus musculus (house mouse)SgcaNP_033187.1
Rattus norvegicus (Norway rat)SgcaNP_001100509.1
Xenopus (Silurana) tropicalis (western clawed frog)sgcaXP_002935590.2
Process
IDNameEvidence
GO:0006936muscle contractionIEA
GO:0007517muscle organ developmentIEA
Component
IDNameEvidence
GO:0005737cytoplasmIEA
GO:0005856cytoskeletonIEA
GO:0005911cell-cell junctionIEA
GO:0016010dystrophin-associated glycoprotein complexTAS
GO:0016012sarcoglycan complexIEA
GO:0016021integral component of membraneIEA
GO:0042383sarcolemmaIEA
GO:0045121membrane raftIEA
Function
IDNameEvidence
GO:0005509calcium ion bindingIEA
GeneCards SGCA
UniProt Q16586
Vega OTTHUMG00000162024
MIM 600119
Ensembl ENSG00000108823
HGNC 10805
HPRD 02525

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SGCA gene?

The SGCA gene provides instructions for making the alpha component (subunit) of a group of proteins called the sarcoglycan protein complex. The sarcoglycan protein complex is located in the membrane surrounding muscle cells. It helps maintain the structure of muscle tissue by attaching (binding) to and stabilizing the dystrophin complex, which is made up of proteins called dystrophins and dystroglycans. The large dystrophin complex strengthens muscle fibers and protects them from injury as muscles tense (contract) and relax. It acts as an anchor, connecting each muscle cell's structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix).

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