SGCZ

Sarcoglycan zeta also known as SGCZ is a protein which in humans is encoded by the SGCZ gene.[5]

SGCZ
Identifiers
AliasesSGCZ, ZSG1, sarcoglycan zeta
External IDsOMIM: 608113 MGI: 2388820 HomoloGene: 26726 GeneCards: SGCZ
Gene location (Human)
Chr.Chromosome 8 (human)[1]
Band8p22Start14,084,845 bp[1]
End15,238,431 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

137868

244431

Ensembl

ENSG00000185053

ENSMUSG00000039539

UniProt

Q96LD1

Q8BX51

RefSeq (mRNA)

NM_139167
NM_001322879
NM_001322880
NM_001322881

NM_145841

RefSeq (protein)

NP_001309808
NP_001309809
NP_001309810
NP_631906

NP_665840

Location (UCSC)Chr 8: 14.08 – 15.24 MbChr 8: 37.52 – 38.66 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix.[6]

Clinical significance

Zeta-sarcoglycan is reduced in mouse models of muscular dystrophy and SGCZ is found as a component of the vascular smooth muscle sarcoglycan complex. Hence SGCZ may be important in the pathogenesis of muscular dystrophy.[5]

References
  1. GRCh38: Ensembl release 89: ENSG00000185053 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000039539 - Ensembl, 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. Wheeler MT, Zarnegar S, McNally EM (September 2002). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Hum. Mol. Genet. 11 (18): 2147–54. doi:10.1093/hmg/11.18.2147. PMID 12189167.
  6. "Entrez Gene: SGCZ Sarcoglycan zeta".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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