2. Gene
  3. KY - kyphoscoliosis peptidase Gene

KY - kyphoscoliosis peptidase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：脊柱侧凸肽酶

种属: Homo sapiens

同用名: MFM7

基因 ID: 339855 | 基因类型: protein coding

关于 KY

Cytogenetic location: 3q22.2 Genomic coordinates (GRCh38): 3:134,599,923-134,651,022 (from NCBI)

This gene has 5 transcripts (splice variants), 137 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in skin (RPKM 2.4), prostate (RPKM 1.2) and 12 other tissues.

功能概要

该基因编码的蛋白质属于转谷氨酰胺酶样超家族。该蛋白质参与神经肌肉接头的功能、成熟和稳定，可能是正常肌肉生长所必需的。该基因的突变与肌病、肌原纤维、7 有关。[RefSeq 提供，2017 年 4 月]

The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]

KY 基因产物(5)

mRNA Protein Name
NM_001350859.2 NP_001337788.1 kyphoscoliosis peptidase isoform 2
NM_001350860.2 NP_001337789.1 kyphoscoliosis peptidase isoform 3
NM_001366276.1 NP_001353205.1 kyphoscoliosis peptidase isoform 4
NM_001366277.2 NP_001353206.1 kyphoscoliosis peptidase isoform 5
NM_178554.6 NP_848649.3 kyphoscoliosis peptidase isoform 1

KY 蛋白结构

Transglut_core

Transglut_core: Transglutaminase-like superfamily (171 - 282)

  • 0
  • 200
  • 400
  • 600
  • 661 a.a.
蛋白主名 其他名称

kyphoscoliosis peptidase

关联疾病

疾病名称 别名
Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7

MFM7

Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome

Myopathy, Myofibrillar, Type 7
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome

Kyphoscoliosis-Lateral Tongue Atrophy-Hsp Syndrome
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Chronic Dacryoadenitis
Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]
Myopathy

Muscular Diseases

Myopathies
Chondroid Chordoma
Chordoid Meningioma

Meningioma, Chordoid
Cervical Incompetence

Uterine Cervical Incompetence
Chronic Dacryocystitis
Clear Cell Meningioma
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

相关产品

Clinical Phase
抗体抑制剂 (1)
目录号 产品名 作用方式
纯度 Phase
HY-P99431 KY-1044 99.51% Phase 2
Pre-clinical Phase
生物活性分子 (23)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-10197 Wortmannin Inhibitor 99.86% 否
HY-124745 KY-05009 99.88% 否
HY-131447 KY19382 98.0% 否
HY-156418 KY386 Inhibitor 99.01% 否
HY-13815 KY02111 Inhibitor 99.23% 否
HY-120327 KY-226 Inhibitor 98.42% 否
HY-102028 KY1220 98.0% 否
HY-124156A KY-02327 acetate Inhibitor 99.24% 否
HY-147084 KY371 98.20% 否
HY-U00148 KY-556 98.59% 否
HY-124156 KY-02327 Inhibitor / 否
HY-113680 KY1022 Degrader / 否
HY-117842 KY 234 Inhibitor / 否
HY-129914 Cefcanel daloxate Inhibitor / 否
HY-144123 HIV-1 inhibitor-16 Inhibitor / 否
HY-174461 PROTAC PI3Kα degrader-1 Degrader / 否
HY-RS07479 KY Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-W164451 N-(2-hydroxy-2-phenylethyl)acetamide / 否
HY-117218 KY-04045 Inhibitor / 否
HY-124764 KY-04031 Inhibitor / 否
HY-167664 KY-455 Inhibitor / 否
HY-RS19855 Ky Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS26355 Ky Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KY RGD RGD:1305407
Felis catus KY VGNC VGNC:63179
Macaca mulatta KY VGNC VGNC:74131
Bos taurus KY VGNC VGNC:106803
Canis familiaris KY VGNC VGNC:42552
Mus musculus KY MGD MGI:96709
Others KY NCBI
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