SGCZ

SGCZ
Identifiers
Aliases	SGCZ , ZSG1, sarcoglycan zeta
External IDs	OMIM: 608113 MGI: 2388820 HomoloGene: 26726 GeneCards: SGCZ
Gene location (Human)
Chr.	Chromosome 8 (human)
End	15,238,431 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	39,128,662 bp
RNA expression pattern
	Top expressed in
	oocyte; ; islet of Langerhans; ; prefrontal cortex; ; stromal cell of endometrium; ; ganglionic eminence; ; cerebellar cortex; ; cerebellar hemisphere; ; nucleus accumbens; ; corpus callosum; ; hypothalamus;
	Top expressed in
	neural tube; ; superior frontal gyrus; ; mesencephalon; ; rhombencephalon; ; hypothalamus; ; hippocampus proper; ; cerebellar cortex; ; olfactory bulb; ; islet of Langerhans; ; limb;
	More reference expression data
	n/a
Orthologs
	137868
	244431
	ENSG00000185053
	ENSMUSG00000039539
	Q96LD1
	Q8BX51
	NM_139167 ; NM_001322879 ; NM_001322880 ; NM_001322881
	NM_145841
	NP_001309808 ; NP_001309809 ; NP_001309810 ; NP_631906
	NP_665840
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated January 19, 2024

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]

Related Research Articles

Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa

The sarcoglycans are a family of transmembrane proteins involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage to the muscle fibre sarcolemma through shearing forces.

Sarcospan is a protein that in humans is encoded by the SSPN gene.

Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD gene, located on chromosome 9q31. Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.

Probable G-protein coupled receptor 82 is a protein that in humans is encoded by the GPR82 gene.

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.

Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.

Alpha-sarcoglycan is a protein that in humans is encoded by the SGCA gene.

Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.

Olfactory receptor 2H2 is a protein that in humans is encoded by the OR2H2 gene.

Olfactory receptor 10H3 is a protein that in humans is encoded by the OR10H3 gene.

Olfactory receptor, family 12, subfamily D, member 2, also known as OR12D2, is a protein which in humans is encoded by the OR12D2 gene.

Tetraspanin-13 is a protein that in humans is encoded by the TSPAN13 gene.

Ubiquitin-conjugating enzyme E2 G1 is a protein that in humans is encoded by the UBE2G1 gene.

Olfactory receptor 9Q1 is a protein that in humans is encoded by the OR9Q1 gene.

Torsin-1A-interacting protein 1 is a protein that in humans is encoded by the TOR1AIP1 gene. More commonly known as lamina associated polypeptide 1 (LAP1), it is a type II integral membrane protein that resides in the inner nuclear membrane. The luminal domain of LAP1 interacts with Torsin A and is necessary for the ATPase activity of Torsin A. LAP1 plays a critical role in skeletal and heart muscle. Mutations in TOR1AIP1 have been linked to muscular dystrophy and cardiomyopathy. It's deletion from mouse hepatocytes leads to defected very-low density lipoprotein secretion and causes non-alcoholic fatty liver disease and non-alcoholic steatohepatitis

Paired mesoderm homeobox protein 2 is a protein that in humans is encoded by the PRRX2 gene.

Disintegrin and metalloproteinase domain-containing protein 18 is an enzyme that in humans is encoded by the ADAM18 gene.

Transmembrane channel-like 8 is a protein which in humans is encoded by the TMC8 gene.

Dystrobrevin beta is a protein which in humans is encoded by the DTNB gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185053 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039539 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
1 2 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.
↑ "Entrez Gene: SGCZ Sarcoglycan zeta".

External links

LOVD mutation database: SGCZ