Cannabaceae

SGCB
Identifiers
AliasesSGCB, A3b, LGMD2E, SGC, sarcoglycan beta, LGMDR4
External IDsOMIM: 600900; MGI: 1346523; HomoloGene: 195; GeneCards: SGCB; OMA:SGCB - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000232

NM_011890

RefSeq (protein)

NP_000223
NP_000223.1

NP_036020

Location (UCSC)Chr 4: 52.02 – 52.04 MbChr 5: 73.79 – 73.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.[5][6]

The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM].[6]

Clinical significance

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Mutations in the SGCB gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 4 (LGMDR4).[7] This condition causes pelvic and shoulder muscle wasting, usually from childhood.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163069Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029156Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM (Mar 1997). "Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)". Hum Mol Genet. 5 (12): 1953–61. doi:10.1093/hmg/5.12.1953. PMID 8968749.
  6. ^ a b "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".
  7. ^ "UniProt". www.uniprot.org. Retrieved 2023-11-22.

Further reading

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One thought on “Cannabaceae

  1. Well, that’s interesting to know that Psilotum nudum are known as whisk ferns. Psilotum nudum is the commoner species of the two. While the P. flaccidum is a rare species and is found in the tropical islands. Both the species are usually epiphytic in habit and grow upon tree ferns. These species may also be terrestrial and grow in humus or in the crevices of the rocks.
    View the detailed Guide of Psilotum nudum: Detailed Study Of Psilotum Nudum (Whisk Fern), Classification, Anatomy, Reproduction

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