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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SGCA (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 6442 Official gene symbol SGCA Full name sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) Aliases ,50-DAG,A2,ADL,DAG2,DMDA2,LGMD2D,SCARMD1,adhalin, Gene 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] Location Chromosome: 17   Locus: 17q21 Gene position 48243366 - 48253293  Map Viewer Gene orientation plus Gene size 9928 bp Gene sequence >SGCA:13517518..13527445:Length=9928 CTCTGTCACTCACCGGGCGGGCCAGGCCGGGCAGCCATGGCTGAGACACTCTTCTGGACT CCTCTCCTCGTGGGCAAGTTGGGGCCTTGTTCAGCGGGGAGGCCCAGGATGAGGGGGCAG GATTTAGGGGTGGTAAGACGGAGGTGTGGAGGGCCCACAGAAGAGGGATCTGGGTTGGGT GAGGCAGGCGCCAGAAGGGCTTTGGGGTGTTAATGCCATGGCCAGCTGGGGATCCAGGGA ATGGGGCTGGGAGCTGGGCTCTGGGATGAAGGGGCTGGGAGCTCTGAGGGCTGGAGGTGT CCTAGGGCCCGGGTGGGTCTGACAGCACAGGCCCAAAGGGTCGTGGGCCCTTTAATGAGC TGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCT GGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTG GCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAG GCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGG GCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCA CACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACAC CCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCTC ACACACCCTCACACACACACCCTCACACACACCGTCACACACACACCCCACACACCGTCA CACACACCCCCCACACACACCCCCACATACCCCCACATACCCCCACACACCCCCCGCAAA CACACACCCCCCACACACACCTTCACACACACACACCCTCACACACACCCTCTCACACAC ACTCACTTGCACACACACCCTCACACACATCCTCACAGACCCTCACACATACCTTCACAC ACACACCCCCCCACATCCCCTCACACACACACACACCCTCACACACACACTTCCCAGTCA AACATCAGTCCCTGCCCACTGCACCATTAATAGGGGCCTAAAACAAGGAATGGAAAGGTT GTGGGAGAGGTTCTCCCTCGAATCCCGAAACCCAGACGATTAAAATGTCTAGCCCAGCAG GGCTTGCTCCCCCATCCCCACCCCAATCCCTTCCTGGGAGGCAGCAAAGGAAGCGCTTCT CTCGGTCCCTTAGGGGCTCCAAGGACTTGGTGGGGAAGGGAGCTTATCCCCTGCCCAGGA CTGAGGCTGGCCTGTGTGTTTGGGACTTGTGGGGTCCCCACAGTTCTCCTGGCAGGGCTG GGGGACACCGAGGCCCAGCAGACCACGCTACACCCACTTGTGGGCCGTGTCTTTGTGCAC ACCTTGGACCATGAGACGTTTCTGAGCCTTCCTGAGCATGTCGGTGAGCGGCCTGACAGG CACCCAGGCGGGCGGGCTGGGGTGTACCCCGCAGGGCTCCTGCTGTGACTCGAATCCCCT CTCCTCGCTTCCACCAGCTGTCCCACCCGCTGTCCACATCACCTACCACGCCCACCTCCA GGGACACCCAGACCTGCCCCGGTGGCTCCGCTACACCCAGCGCAGCCCCCACCACCCTGG CTTCCTCTACGGCTCTGCCACCCCAGAAGATCGTGGGCTCCAGGTCATTGAGGTGCCGTC AGGGACCCTGAGAAAATCACAGGGGTGGGCCAGAGTGGCCTCCTAGGAGCAGCCCTATGA ATTGGGATTGGGTGCTCATTCACAGTCATTTACATATAATTTACATACCTCTAATTTGGT ATCTGAGTCCTCTCCTGCCAGGCCCCCGCTGTGCCACGTTTCTCCCCTAACCCACTTCTC AGATGTCTTTCCCATCCCCCAGGTCACAGCCTACAATCGGGACAGCTTTGATACCACTCG GCAGAGGCTGGTGCTGGAGATTGGGGACCCAGAAGGTACCTCTAGCTGTGCCCCATCCCT TCCCCACCAATGCCAGTCTTGGGGAATCTCTCCCGGAGGGGGAGGGGGCTGTGGACAGGA GAGGCTTGGAGAGGAGTGGAGCAGGGCATCCTGGAAAGTGGGGACAAGGCTCTCAGGGAA TGGGTGCTGGGCTGGGATTCCAGGCTCTGGAGTTCTGTTACTCGCTGCGTTGCAGAGACT ATTGGGACTTGGCTTGTTGGGGTCTGTGATGGATGGGGCATTGAGGGGCCTGAAGGGGTG TGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGC AGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCT GGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTC AGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTT GGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAGGGTAGGTGTGCAA CCCTAGAGGACTTCCTGAAAGAGGAGGATGCAGCTTGTGGCGGGCATAGAACAAGGGTCT CCCTAATTTCCAGGTGGGGCTTTACCACGCACATCTCCACCTCCCAGCTTCACACCCCTC ACCACTCTCCTCTGGCTATACCCGCATCTCCTTGTCCTTCCAGAGCCTAGACCCTAGTTA CCCTGAACTCTGTACTTCCTGGTGCCTCATGAGGACGTACCAGATACATCCATTAAAAGA CATTCCTTAGTAGGGAGGGTAAGACCCCCTAGAAGAATGGGGTGCCCTGTGTACTCTCAC CATGATCTCAGATCTCTGGGAGGACTGTGACTCCTGCCAGACCCCAGCTGTGCCATGTTC CTCCCTTAATCCTCCCTCTTAGGCGTCTCCCTCATCCCATCCCCAGGTCATAGCCTACAA TTAGGAAAGTTTCAACAACCCCTGGCAGAGTGGTGCCTCGTGCCCCCTGCCCCCACTCTG CTGACAGTGACTTCTATCTGGTCCCAGGGTATACATTAAGGTGGGTTCTGCCTCACCTTT TTCTACTTGCCTGAAGATGGTGGCATCCCCCGATAGCCACGCCCGCTGTGCCCAGGGCCA GCCTCCACTTCTGTCTTGCTACGACACCTTGGCACCCCACTTCCGCGTTGACTGGTGCAA TGTGACCCTGGTGAGGAGGGACCCTGGGTCCGGGGGTGGGGTGGGGCATGGCCCCCATCC CAGTCCCCCTTCCCTCCCATGCTGCTTCCTATCTCCGTCTCTCTGATTGCTCCAGTCACC ATTTCTTTCCCTGATGCTCTCAGTATTGCCCACAGGCTTAGTCTGAGGATACACACACAC ACACACACACACACACACACACCCCTGAAGTTCTACCTTTCCCCCACAAGAGGGCAACAG AGTCCGCAATCCGCATGTGGGGTCTCCAACTCCCGCGCCCCAGATCTGCCCAGGTCAACA GCTATATCACAGTCCAGTTCCCAAACCCTTTCCCTACCAAGGGCCTCTGCGTGACAGCTC TGTCTGCTTTTCTGTAAGGTGCCACCTAGCAAACCCACTTACAACAAGGATCTGATAGCT CTTCACACTATAAACCAAAGATGCTCACAACAGCTCTTTGGATACTGAGCTGAGGTTCAC AGGATCCCACGGCTGGTGTACACTGTTCCTGTGAATTGACCAACAGAGCAGGGACTCATT CAGGGTCCACAGCCAGCGACTGGTAATTGACAACATTCTTGAGCACTTGCTATGTGCTTG GCACTGTCCCATCAACATATTTTATGCTCACCACCACTCCAGGAGACAGGTGCTACTATT ATCCTTCTGACATTACAGGTGATGAAACAGAGGCACATAATCATCCTAGCTAAGCACTTG TCTGAGTCTGGATTCAAACCAGGAGGTCAGACCCTAGAGCTGTGCGCTAACCAGTGCACT GTCCCGCCTCTGCTGGACTTTGTGTCTCCTGCCTCCTAGTCCTGGCCCCTGCCATGTTCC TGGGGACCTCTGTGTCCAGCCAGCCACTTCCTGCGTCAGCCCTGAGCTCTCTGTGCAGGT GGATAAGTCAGTGCCGGAGCCTGCAGATGAGGTGCCCACCCCAGGTGATGGGATCCTGGA GCATGACCCGTTCTTCTGCCCACCCACTGAGGCCCCAGACCGTGACTTCTTGGTGGATGC TCTGGTCACCCTCCTGGTGCCCCTGCTGGTGGCCCTGCTTCTCACCTTGCTGCTGGCCTA TGTCATGTGCTGCCGGCGGGAGGGAAGGTGAATGTGGGCATGAAGGGCGGGGGAGCACCT GCTGGAGCTCACACCCATGGGACTCACAGTGGCACTTGTGCTGTATGGGACCCAGACACC ATGGGAATGGGGTTCTCAGGCACAAAAGGAGTGTGGGGCCCCTTTCTAGGCAACTTGGGG CTTGAGACCTGCCTGGCCTGGCACCAGGAGGGCATTGTGGATAATTGCACACAGACCTCC ACTCACATTGGAGCCCTGGGGCACCTTGGGGCGAAACCCAGAGCTGGGCTAACCCTCTCC TTCACTTTTCCACAGGCTGAAGAGAGACCTGGCTACCTCCGAGTGAGTAAAGGAAAGCTG GGGGTGGGGTGGGAGCCCACCTAGACAGTTGTTGGACCCCGCCACCAAACTATGCCATGA ACAGCAGAGACAAAATAAATAACTCCAGGGTGATGCTCACCCCTTCCCTTGACCTCTGTA ATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATTGGTTGAGCCTGGAAGTTTGAGGCCA GCCTGGGCAACACAGTGAGACCCCATCTCAACAAAAAAAAAATTTTTTAACTAGCCAGGC GTGGTGGAGCATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATAGGAGAATCGCTTGA GCCTGGGAGATTGAGGCTGCAGTGAGCCGTAATCGTGCCACGGCACTCCAGCCTGGGCGA CAGAGTGAAACTCTTTCCCCCAAAAAAGAAAAGCCTGTTGTGACACAGGGGAATGGGACC TGCTGCCACTCTGGGGGAAAGGGCTTGAGAAGCAACTTAAGAGACTCCCAGTATCAGTAT GAGTCAGACACCTGCGGTCCAGGCCAGGCTCTGCCACACAATTACTCTGTCACCCTTCTT TCTGGCTTCAGATGCTCCACCTGCAAGATCACGAGGTTGGACTAGCTGGTGTCTATGAGT GCTTCCAATTCTGCCAGCCCTTTCCAAATCCTTCCTCTCTTATTTTGGCCTGGTTTCCCC TACTCATGGCCTTACCCCTCCTATGTGCCCCCAGCCCTCTTCCTCTCCCAATACCCTGAA CCCTAGATTCCAGGAGGCAGATGTGAAATAAGTTATGTTCCTTTTATTCCCACTGCACTG AGCCAATGGCGGTCTTGGCACCCCTGACTGCTTGCCTGGCCTGCCTCATTAATTGCAGTG GCACTTGGCCACCCTTCGAACCCCCTTGATAAGCCGCTTGTGCCCCTGTTTGGAGCCCAG TAGTGACCTGTGCTGTCCAAAGGGGCGCTGCCCAGAGCGCCACCTCTGCTGTCGTTGCCT CTTGACCTTGAGCTTGGACTTGGAGGCCTGCTTCTTGCCCAGGGTGAAGGAGCCTGAGGC CCCCCTGCCGGTCACCTGCTGAGCCCTTGTCCACCAGCCCCTTGAGCACACGCTTGAAGT GATAGGCATTTCGGGCCATGTCGTAGCCCGTGGTGGAAACAGCCTTCTTCAGGGTGGCCA GGGACACATACTTGCAGGTCCCCTTGTCCGCCACAGCCCTCAGGATCACCTTGGACGTGC TGGGCTTCTGGCAGGGTTTGGCACAGGTGCGTTGCCCAGTCGCTGTCTTGCTAGGGACAC GCTGCCCTGCTGGCCTCCACCCATGGCAGTATTTGAGTTCAACAGCACTGATGGAGACAG TGGCGAAGTGCCTTTCTGCTTCTCTCCCTGGGGTAGGTGAAGTGTCTTGGGTGCAAGGAC CTCCAGGGCGGCTGGAAGTCTCCACTGGGCTGCCCCTCACAGGATGGCTGAGGTGTGTCC CGGTTCCTGGTCCTCGCTGAGGCTTCCTCTTGAGCTCCGGCCCTCACCTTTACCTGTGTG GCCAGAAAGAGGATCAAGGACGGTCACCCACGGCTGGCCTCCACAGACTTGTGCTCTTGG TGCAGGGGTTGGTGAGGTTATCTCTGTGGTGACCTCAGAGGCTACCAGAATTCTGTGTGG GTCACAGTGGCCCCATTGTTTCCTCCGGGGAGGGGTGGACCGGAGATGCCAGATGGTGGA GGCATGTAACATGCCAGGTGTCCTGGGGAGGAGGGCTGCGCTTGTGGGCCAGACAGCGGG CCTGCACGGTGCGTGCACATATGCATGTGTGTGTGCACATGCCTGGGCGGATTTTATTTT TTAAAAAATTTTTAGAGAGAGGGTCTCACTTTGTCACCCAAGCTGGAGCACAGTGGCATA ATCATAGCTCACTGCAACCTCAGACTCCCTGGGCTCAAGCGATCCTCCCATCTCAGCTTC CTGAGTAGCTGGGACTAAAGCTACTGCACCTGGCCTGGCCCCCAGTTTTAAACTCACCAT TTTGATCCCACCATCTTGACCCACTGGGTTTTTGAGCCACTGGGTTGAAGAATACAAGCT TTGCAGGCATCAGGGTTATACCAACATTTATGAATTTTTATGGGGAATATAGTTTCCAAA GTGAACAGAGATGTACGCTAAGTTGACTTACGCTAAGTTGACTTAATTCCTCAAGCAACT TTCTATACAAAGCAGTTAAAAGGCTTTGCTTTTATTTTCTGTTTTCAATTTTATAGAATT TTTCCCCATGGGGATCAGTGATTTTTCATGTACATTTCACTAGGAAGATTTTATTCCTCA ATTTTTTTGGACTGAACCAAATTTAAACACTAACATCTACTGGCACTGGGGATATTCTCT TGTGACCAGTATTTCCTCCACATCCAGCCTTCCCCGGGTCAACTCTGTAGCTCTGATGTT GTCAGAAAAATCTGCTGCCTCAGTCAATGTGAAATCAATAACCGTTTTACCATGTGCAAC GTTAGCCTTGGCTGGTTTGGATTTCACGTTGATGTATTTCTACAAAATCCAATTTTTCAC TTGTTCAATGTCTGCCACTTTTCAGATTATCCACAAGTTATGATTCTGCTGCCTGCTTTT CACCTAGATCAGATTTCAGCGGTCACAGAGTCCTCCAGGCCCCACGACCCTCTCCTGGGG ATTTCTGTGCCAGAGGCAGTGCTTTCGGGACTGTGTGTTGGTGGTGGAGTGGGTGTGGGT GAGACCTAGGCCACGTGTGTGTGTGTCTGTGCGTGTGCCTGAGTGTGTAGGAATGCCTGC CGTTTGTCTGTCTGCCCAAGTGCTGATGTGGAAGGACCGTGGGGAAGCCACTGCGGGGTC TGGCCTCTGCTCTTGCTCTAGAAAAACATCCCCAGCACATTTTTCCACCTGTGTGTTGCC AGAGTAATGAGGTCCAGATGTGGGGCTGGGAATAAGGAGGGGGCCCACTGACTGAGGCCT TCCTCTGCCAGGGCCTCACCTGCCCAGCTGTCTCTATCTCAGCATCCACACACTGGTTGC TTTCTTTCCCCTCAGTCTCCCCTTGCCTGGGAATAGAAAATTGGGTTTCGGACAACTCAG CTCACTGAATTCCAGACTCAAGAGCTCATCTTGACCCTCCCCTGGCCTTAGATGGTGACT CCACCTCTTCCTGCTGGCCTCCCCGCAGGAGGAGCATGGCCCATTCAGCGTGAAGCTAGG TCTTTTCTGCAGTCTAAACTGTCAGGCTCTAACCGGAGTCTGTGTCCACTAATTGGGACC TGAACATGGGTGGGGATCACTTCTCCTCCCTCATCTCATCAGTAACCAAGTGGCAAGTGG GGTCGCTTCAGCCCTGCCTGGGGCCCCAGCTCCTCTAAGAAAACCAATTCTTGGCTGGGT GCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGAGGGTCCCTTGA GGCCAGGAGTTCAAGACCAGCCTGAACAACATAGTAAGACACCTGTCTCTACAAAAAAAA TTTTAAATTAGCCGAGCATGGTGGCTTGCACTTATAGTCCCAGTTACTCAGGAGGCTGAG GCAGGAGTATCGCTTGAGCCCAGGAGGTAGAGGCTGCAGTGAGCTACGATTGTGCCACTG CACTGAAGTTGGCGACAAAGTGAGACCCCATCTCTTAAAAATAAATAAATAATATAAAAA CATAATATAAAGCTCAGCAAACACTGGCTTCTGGAAGAATATGGCCCCTGTGGATGTCTA TTCATGTCTCCATATCTTGTGAGCGCTTATCACGTGGTGGGCACTGTTGTAAACACTCAG CCACATTTTCTCTTTCAATCTTCACAGCAGTCCTAGGAGGTAGGTTTTGGTTTTTTTTTT TAAATAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCTTGGCCTCAAGT GATCCACCCGCTTCGGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCGG CCTGGTGGTAGGTGTTATTATCTCCATTTGGCCGTTGAGCAAACTAAGGCATGGAGTGGT TAAGCAACTTGCCCAAGACACACAGCCTTGAACCCAGGCTGTCTACACCCACAGCCTATG TCTTGACCACTGGGCACTGAGCAGGCACCATAGAGCTTTCTTTTTTTTGTTTTTTTTCTT CTTTTTTTTACTTTGAGATGGAGTCTCTTGCGATCTCAGCTCACTGCAACCTCCGCCTCC CAGGTTCAAGTGAATCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACC ACCACACCTGGCTAATTTTTATTTTTATTTTTTGTAGAAACAGGGTTTCACCGTGTTGGC CAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCT GGGATTATAGGCATGAGCCACCACGCCCGGCCCCATAGAGCTTTCTGTTTGTTTTCTGCC CCTGCATCATGTGTCTGAGTCTCTCCCCACATAAGTGGTGGGGAGGACCGCAGGGTGGCT CAGAGGCAGTTCCAGGCTGTACTCCAGGGCAGCTGACTCCCAGAGCTGATGACTCCCCAC CTGTGCCTCCAGCATCCAGATGGTCCACCACTGCACCATCCACGGGAACACAGAGGAGCT GCGGCAGATGGCGGCCAGCCGCGAGGTGCCCCGGCCACTCTCCACCCTGCCCATGTTCAA TGTGCACACAGGTGAGCGGCTGCCTCCCCGCGTGGACAGCGCCCAGGTGCCCCTCATTCT GGACCAGCACTGACAGCCTAGCCAGGTAGGTCTGGTGGGTGATGCCAGCCTTATTTCTGG GAACAAGATGGCCTTTATCACAAGGCTGGGGCAAATGGTGGGGTCTGGGAGAGGTCAGGG GAAGAGGCACATAGACTTGTCTGCCCCTCTGAGGCCGCTGCTGGGGGTCCTCACCAGTGC CAGGGCTATGACCCCAATGCCAAGCACTCGCAGTTGGAGTGTCAGGGTGGGGAAGTCAGG AGAACCAGCATCTGGCCCTCTCAGCCCTCCACTCTCTCTTCCCACAGTGGTTCCAGGTCC AGCCCTGACTTCATCCTCCCTTCTCTGTCCACACCACGAGTGGCACATCCCACCTGCTGA TTCCAGCTCCTGGCCCTCCTGGAACCCAGGCTCTAAACAAGCAGGGAGAGGGGGTGGGGT GGGGTGAGAGTGTGTGGAGTAAGGACATTCAGAATAAATATCTGCTGCTCTGCTCACCAA TTGCTGCTGGCAGCCTCTCCCGTCCTCA OMIM ID 600119