KY - kyphoscoliosis peptidase Gene

Also Known as MFM7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 339855

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

Transglut_core: Transglutaminase-like superfamily (171 - 282)

  • 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

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive MoleculesInhibitory Antibodies (1)
Cat. No. Product Name Effect
Purity Phase
HY-P99431 KY-1044 99.51% Phase 2

Pre-clinical Phase

Bioactive Molecules (26)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-10197 Wortmannin Inhibitor 99.86% Unkown
HY-124745 KY-05009 99.88% Unkown
HY-156418 KY386 99.86% Unkown
HY-131447 KY19382 98.0% Unkown
HY-13815 KY02111 Inhibitor 99.23% Unkown
HY-120327 KY-226 Inhibitor 98.42% Unkown
HY-124156A KY-02327 acetate Inhibitor 99.24% Unkown
HY-174461 PROTAC PI3Kα degrader-1 Degrader 99.21% Unkown
HY-102028 KY1220 98.0% Unkown
HY-147084 KY371 97.76% Unkown
HY-178227 KY19334 Inhibitor / Unkown
HY-U00148 KY-556 98.59% Unkown
HY-124156 KY-02327 Inhibitor / Unkown
HY-113680 KY1022 Degrader / Unkown
HY-117842 KY 234 Inhibitor / Unkown
HY-129914 Cefcanel daloxate Inhibitor / Unkown
HY-152143 KY216 / Unkown
HY-186143 KY0418 / Unkown
HY-RS07479 KY Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W164451 N-(2-hydroxy-2-phenylethyl)acetamide / Unkown
HY-113773 KY-9 Inhibitor / Unkown
HY-117218 KY-04045 Inhibitor / Unkown
HY-124764 KY-04031 Inhibitor / Unkown
HY-167664 KY-455 Inhibitor / Unkown
HY-RS19855 Ky Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26355 Ky Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
Bioactive MoleculesInhibitory Antibodies (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-P991881 KY1070 / Unkown
HY-P992397 KY1051 Inhibitor / Unkown
HY-P992451 RLYB331 / Unkown
HY-P99434A Amlitelimab (FUT8-KO) 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