KEGG   Homo sapiens (human): 6442Help
Entry
6442              CDS       T01001                                 

Gene name
SGCA, 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin
Definition
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
Orthology
K12565  
alpha-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Viral myocarditis
Disease
H00565  
Sarcoglycanopathies
H00593  
Limb-girdle muscular dystrophy (LGMD)
Class
Human Diseases; Cardiovascular diseases; Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410]
Human Diseases; Cardiovascular diseases; Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412]
Human Diseases; Cardiovascular diseases; Dilated cardiomyopathy (DCM) [PATH:hsa05414]
Human Diseases; Cardiovascular diseases; Viral myocarditis [PATH:hsa05416]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
17q21
AA seq 387 aa AA seqDB search
MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI
TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL
VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD
RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF
RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL
PMFNVHTGERLPPRVDSAQVPLILDQH
NT seq 1164 nt NT seq  +upstreamnt  +downstreamnt
atggctgagacactcttctggactcctctcctcgtggttctcctggcagggctgggggac
accgaggcccagcagaccacgctacacccacttgtgggccgtgtctttgtgcacaccttg
gaccatgagacgtttctgagccttcctgagcatgtcgctgtcccacccgctgtccacatc
acctaccacgcccacctccagggacacccagacctgccccggtggctccgctacacccag
cgcagcccccaccaccctggcttcctctacggctctgccaccccagaagatcgtgggctc
caggtcattgaggtcacagcctacaatcgggacagctttgataccactcggcagaggctg
gtgctggagattggggacccagaaggccccctgctgccataccaagccgagttcctggtg
cgcagccacgatgcggaggaggtgctgccctcaacacctgccagccgcttcctctcagcc
ttggggggactctgggagcccggagagcttcagctgctcaacgtcacctctgccttggac
cgtgggggccgtgtcccccttcccattgagggccgaaaagaaggggtatacattaaggtg
ggttctgcctcacctttttctacttgcctgaagatggtggcatcccccgatagccacgcc
cgctgtgcccagggccagcctccacttctgtcttgctacgacaccttggcaccccacttc
cgcgttgactggtgcaatgtgaccctggtggataagtcagtgccggagcctgcagatgag
gtgcccaccccaggtgatgggatcctggagcatgacccgttcttctgcccacccactgag
gccccagaccgtgacttcttggtggatgctctggtcaccctcctggtgcccctgctggtg
gccctgcttctcaccttgctgctggcctatgtcatgtgctgccggcgggagggaaggctg
aagagagacctggctacctccgacatccagatggtccaccactgcaccatccacgggaac
acagaggagctgcggcagatggcggccagccgcgaggtgccccggccactctccaccctg
cccatgttcaatgtgcacacaggtgagcggctgcctccccgcgtggacagcgcccaggtg
cccctcattctggaccagcactga

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