full name
sarcoglycan alpha

synonyms
50-DAG, A2, adhalin, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, SGCA, ENSG00000108823

HGNC
HGNC:10805

Entrez Gene
Gene:6442

ENSEMBL
ENSG00000108823

location
chr: 17
start: 48243240
stop: 48253293
strand: +

OMIM
OMIM:600119: SGCA (Autosomal recessive inheritance)
OMIM:608099: Muscular dystrophy, limb-girdle, autosomal recessive 3

transcripts
NM_000023.2
NM_001135697.1

pathways
Arrhythmogenic right ventricular cardiomyopathy (ARVC) [NCBI:117293] [KEGG:hsa05412] [PUBMED:16823481] [PUBMED:19205777] [PUBMED:11716909] [PUBMED:12270949] [PUBMED:18382419] [PUBMED:16101641] [PUBMED:16124859] [PUBMED:17413274]
Dilated cardiomyopathy [NCBI:121494] [KEGG:hsa05414] [PUBMED:11524405] [PUBMED:11805847] [PUBMED:12270949] [PUBMED:14522402] [PUBMED:19017683] [PUBMED:15146239] [PUBMED:18672201] [PUBMED:19273156] [PUBMED:19246813] [PUBMED:11716909] [PUBMED:16817756]
Hypertrophic cardiomyopathy (HCM) [NCBI:114229] [KEGG:hsa05410] [PUBMED:11805847] [PUBMED:18572189] [PUBMED:14711353] [PUBMED:19136482] [PUBMED:18056765] [PUBMED:11225594] [PUBMED:12844200] [PUBMED:10615904] [PUBMED:11716909] [PUBMED:11371514] [PUBMED:12270949]
Viral myocarditis [NCBI:125138] [KEGG:hsa05416] [PUBMED:19357408] [PUBMED:18545064] [PUBMED:18357777] [PUBMED:11524405] [PUBMED:12920582] [PUBMED:14522402] [PUBMED:17200452] [PUBMED:18039131] [PUBMED:16413486] [PUBMED:12439638] [PUBMED:16817756] [PUBMED:16845885] [PUBMED:10051305] [PUBMED:10904843]