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  2. CST4 - cystatin S Gene

CST4 - cystatin S Gene

中文名称:胱抑素 S

种属: Homo sapiens

基因 ID: 1472 | 基因类型: protein coding

关于 CST4

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:23,685,640-23,689,038 (from NCBI)

This gene has 1 transcript (splice variant), 97 orthologues and 11 paralogues. Restricted expression toward salivary gland (RPKM 5781.4).

功能概要

胱抑素超家族包括含有多个胱抑素样序列的蛋白质。一些成员是活性半胱氨酸蛋白酶抑制剂,而其他成员则失去或可能从未获得这种抑制活性。超家族中有三个抑制家族,包括 1 型胱抑素 (stefins) 、2 型胱抑素和激肽原。 2 型胱抑素蛋白是一类半胱氨酸蛋白酶抑制剂,存在于多种人体体液和分泌物中。 20 号染色体上的胱抑素基因座包含大多数 2 型胱抑素基因和假基因。该基因位于胱抑素位点,编码一种 2 型唾液半胱氨酸肽酶抑制剂。该蛋白质是一种 S 型胱抑素,基于其在唾液、眼泪和精浆中的高水平表达。这些液体中的具体作用尚不清楚,但存在抗菌和抗病毒活性,与保护功能一致。[RefSeq 提供,2008 年 7 月]

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine Protease Inhibitors, while Others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but Antibacterial and Antiviral activity is present, consistent with a protective function. [provided by RefSeq, Jul 2008]

CST4 基因产物(1)

mRNA Protein Name
NM_001899.3 NP_001890.1 cystatin-S precursor

CST4 蛋白结构

Cystatin

Cystatin: Cystatin domain (32 - 127)

  • 0
  • 100
  • 141 a.a.
蛋白主名 其他名称

cystatin-S

cystatin 4

重组 CST4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7866 Cystatin S/CST4 Protein, Human (HEK293, His) P01036 (S21-A141) ≥95%

关联疾病

疾病名称 别名
Blepharitis
Cerebral Amyloid Angiopathy, Cst3-Related

Cerebral Amyloid Angiopathy

Hereditary Cerebral Hemorrhage With Amyloidosis

Hchwa

Hereditary Cystatin C Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Familial

Amyloidosis, Cerebroarterial, Icelandic Type

Amyloidosis Vi

Cerebral Hemorrhage, Hereditary, With Amyloidosis

Cst3-Related Cerebral Amyloid Angiopathy

Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant

Caa, Familial

Cerebral Amyloid Angiopathy, Genetic

Acys Amyloidosis

Cst3-Related Amyloidosis

Cystatin Amyloidosis

Hchwa, Icelandic Type

Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type

Amyloidosis 6

AMYL6

Acys

Caa

Cerebral Amyloid Angiopathy Cst3-Related

Cerebroarterial Amyloidosis Icelandic Type

Cystatin C Amyloidosis

Hccaa

Hchwai

Hchwa-I

Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type

Cerebral Amyloid Angiopathy Familial

Angiopathy, Amyloid, Cerebral, Cst3-Related

Hereditary Cerebral Amyloid Angiopathy, Icelandic Type

Familial Cerebral Amyloid Angiopathy

Cerebral Amyloid Angiopathy, Hereditary

Tick Paralysis
Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease

Epm1

Myoclonic Epilepsy Of Unverricht And Lundborg

Myoclonus Progressive Epilepsy Of Unverricht And Lundborg

Unverricht - Lundborg Disease

Unverricht'S Disease

Epilepsy, Progressive Myoclonic Type 1

Epilepsy, Progressive Myoclonus 1

Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy

Baltic Myoclonic Epilepsy

Baltic Myoclonus

Baltic Myoclonus Epilepsy

Lundborg-Unverricht Syndrome

Mediterranean Myoclonic Epilepsy

Pme

Progressive Myoclonic Epilepsy

Progressive Myoclonus Epilepsy 1

Uld

Myoclonic Epilepsies, Progressive

Root Caries

Cementum Caries

Dental Caries Of Root Surface

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

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