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FLASH GENE

Symbol

SGCA

contributors: mct/npt - updated : 14-06-2008

HGNC name	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
HGNC id	10805

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 10 - 1404 42.8 387 - Rafii (2006)

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary     moderately Respiratory respiratory tract larynx     highly Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Sgca

Homologene

FAMILY

sarcoglycan alpha/epsilon family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	sarcolemma
	type I membrane protein

basic FUNCTION	playing a role in muscle contraction
	forming a link between the F-actin cytoskeleton and the extracellular matrix

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	muscular development

PATHWAY

metabolism

signaling

a component	associating with other sarcoglycans and carcospan in a stoichiometrically equal complex, stabilizing the link between dystroglycan and dystrophin/utrophin
	two major subcomplexes : one consisting of SGCB, SGCD and SGCG and the other consisiting of SGCB and SGCD (association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans)

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	dystrophin
	syntrophin SNTA1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD2D

related resource

Limb-Girdle Muscular Dystrophy, Type 2D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS