1. Gene
  2. SGCZ - sarcoglycan zeta Gene

SGCZ - sarcoglycan zeta Gene

中文名称:肌聚糖 zeta

种属: Homo sapiens

同用名: ZSG1

基因 ID: 137868 | 基因类型: protein coding

关于 SGCZ

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:14,084,845-15,238,431 (from NCBI)

This gene has 2 transcripts (splice variants), 247 orthologues and 2 paralogues. Low expression observed in reference dataset.

功能概要

zeta-肌聚糖基因测量超过 465 kb 并定位于 8p22。这种蛋白质是肌聚糖复合物的一部分,由 6 种蛋白质组成。肌聚糖都是 N-糖基化的跨膜蛋白,具有短的细胞内结构域、单个跨膜区域和包含羧基末端簇的大细胞外结构域,具有几个保守的半胱氨酸残基。肌聚糖复合物是抗肌萎缩蛋白相关糖蛋白复合物 (DGC) 的一部分,它连接细胞内骨架和细胞外基质。[RefSeq 提供,2008 年 7 月]

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 extra-cellular matrix. [provided by RefSeq, Jul 2008]

SGCZ 基因产物(4)

mRNA Protein Name
NM_001322879.2 NP_001309808.1 zeta-sarcoglycan isoform 2
NM_001322880.2 NP_001309809.1 zeta-sarcoglycan isoform 3
NM_001322881.2 NP_001309810.1 zeta-sarcoglycan isoform 4
NM_139167.4 NP_631906.2 zeta-sarcoglycan isoform 1

SGCZ 蛋白结构

Sarcoglycan_1

Sarcoglycan_1: Sarcoglycan complex subunit protein (36 - 303)

  • 0
  • 100
  • 200
  • 312 a.a.
蛋白主名 其他名称

zeta-sarcoglycan

zeta-SG

关联疾病

疾病名称 别名
Hallucinogen Abuse
Dystonia 11, Myoclonic

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11

Embryonal Testis Carcinoma

Testicular Embryonal Carcinoma

Embryonal Carcinoma Of Testis

Embryonal Carcinoma Of The Testis

Otopalatodigital Syndrome, Type Ii

Otopalatodigital Syndrome Type 2

Faciopalatoosseous Syndrome

OPD2

Opd Ii Syndrome

Opd Syndrome 2

Cranioorodigital Syndrome

Fpo

Oto-Palato-Digital Syndrome, Type Ii

Andre Syndrome

Oto-Palato-Digital Syndrome Type 2

Otopalatodigital Syndrome Type Ii

Cranio-Oro-Digital Syndrome

Opd 2 Syndrome

Opd Syndrome, Type 2

Taybi Syndrome

Otopalatodigital Syndrome 2

Oto-Palato-Digital Syndrome, Type 2

Oto-Palato-Digital Syndrome Type 1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SGCZ RGD RGD:1307788
Canis familiaris SGCZ VGNC VGNC:49686
Macaca mulatta SGCZ VGNC VGNC:77230
Felis catus SGCZ VGNC VGNC:107463
Mus musculus SGCZ MGD MGI:2388820