SGCZ

SGCZ
Identifiers
Aliases	SGCZ , ZSG1, sarcoglycan zeta
External IDs	OMIM: 608113; MGI: 2388820; HomoloGene: 26726; GeneCards: SGCZ; OMA:SGCZ - orthologs
Gene location (Human) Chr. Chromosome 8 (human) [1] Band 8p22 Start 14,084,845 bp [1] End 15,238,431 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 A4 Start 37,989,452 bp [2] End 39,128,662 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle oocyte islet of Langerhans prefrontal cortex stromal cell of endometrium ganglionic eminence cerebellar cortex cerebellar hemisphere nucleus accumbens left ovary Top expressed in striatum of neuraxis neural tube Cortex of frontal lobe superior frontal gyrus mesencephalon primary visual cortex rhombencephalon hypothalamus dentate gyrus of hippocampal formation granule cell hippocampus proper More reference expression data BioGPS n/a
Orthologs Species Human Mouse 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 Mb Chr 8: 37.99 – 39.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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".

External links

• LOVD mutation database: SGCZ

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Anastasi G, Cutroneo G, Sidoti A, et al. (2007). "Sarcoglycan subcomplex expression in normal human smooth muscle". J. Histochem. Cytochem. 55 (8): 831–43. doi: 10.1369/jhc.6A7145.2007 . PMID   17438352.
• Aurino S, Piluso G, Saccone V, et al. (2008). "Candidate-gene testing for orphan limb-girdle muscular dystrophies". Acta Myol. 27 (3): 90–7. PMC   2858943 . PMID   19472918.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.

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