KY - kyphoscoliosis peptidase Gene

Homo sapiens

Also known as MFM7

Gene ID: 339855 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

Transglut_core

0
200
400
600
661 a.a.

Protein Preferred Names

Protein Names

kyphoscoliosis peptidase

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-10197	Wortmannin	Inhibitor	99.86%	Unkown
HY-124745	KY-05009		99.24%	Unkown
HY-131447	KY19382		≥98.0%	Unkown
HY-120327	KY-226	Inhibitor	98.28%	Unkown
HY-13815	KY02111	Inhibitor	99.74%	Unkown
HY-102028	KY1220		≥98.0%	Unkown
HY-124156A	KY-02327 acetate	Inhibitor	99.35%	Unkown
HY-156418	KY386	Inhibitor	99.01%	Unkown
HY-147084	KY371		98.20%	Unkown
HY-U00148	KY-556		98.59%	Unkown
HY-124156	KY-02327	Inhibitor	/	Unkown
HY-RS07479	KY Human Pre-designed siRNA Set A		/	Unkown
HY-W164451	N-(2-hydroxy-2-phenylethyl)acetamide		/	Unkown
HY-113680	KY1022	Degrader	/	Unkown
HY-124764	KY-04031	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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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