MYO9A - myosin IXA Gene

Homo sapiens

Also known as CMS24

Gene ID: 4649 | Gene type: protein coding

About MYO9A

Cytogenetic location: 15q23 Genomic coordinates (GRCh38): 15:71,822,291-72,118,600 (from NCBI)

This gene has 21 transcripts (splice variants), 287 orthologues, 43 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 12.9), thyroid (RPKM 5.9) and 24 other tissues.

Summary

This gene encodes a member of the Myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]

MYO9A Products(1)

mRNA	Protein	Name
NM_006901.4	NP_008832.2	unconventional myosin-IXa

MYO9A Protein Structure

Myosin_head

RhoGAP

0
400
800
1200
1600
2000
2400
2548 a.a.

Protein Preferred Names

Protein Names

unconventional myosin-IXa

myosin-IXa

Related Diseases

Diseases

Alias

Myasthenic Syndrome, Congenital, 24, Presynaptic

CMS24

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Myopathy, Myofibrillar, 8

Myofibrillar Myopathy 8	MFM8
Myopathy, Myofibrillar, Type 8

Myopathy, Centronuclear, 4

CNM4	Centronuclear Myopathy 4
Congenital Myopathy With Internal Nuclei And Atypical Cores	Centronuclear Myopathy Type 4
Myopathy, Centronuclear, Type 4

Bardet-Biedl Syndrome 7

BBS7	Bardet-Biedl Syndrome, Type 7

Myopathy, Centronuclear, 5

CNM5	Centronuclear Myopathy 5
Myopathy, Centronuclear, Type 5

Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A	Hmn Viia
Dhmn7a	Neuropathy, Distal Hereditary Motor, Type Viia
Dhmnvp	Harper-Young Myopathy
Distal Hereditary Motor Neuronopathy Type 7a	Distal Hereditary Motor Neuropathy Type Viia
Neuronopathy, Distal Hereditary Motor, Type 7a	Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis
Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a	Harper-Young Myopath
Neuronopathy, Distal Hereditary Motor, 7a	Distal Hereditary Motor Neuronopathy Type Viia
Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis	Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Neuropathy, Motor, Distal, Hereditary, Type Viia

Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7	MFM7
Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome	Myopathy, Myofibrillar, Type 7

Myasthenic Syndrome, Congenital, 14

Congenital Myasthenic Syndrome 14	CMS14
Cmsta3	Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates	Congenital Myasthenic Syndrome 14, With Tubular Aggregates
Congenital Myasthenic Syndrome With Tubular Aggregates 3	Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates

Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10	Autosomal Recessive Spinocerebellar Ataxia 10
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 10
Spinocerebellar Ataxia, Autosomal Recessive, 10	Ataxia, Spinocerebellar, Autosomal Recessive, Type 10

Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome	17q23.1-Q23.2 Microdeletion Syndrome
Del(17)(Q23.1q23.2)	Monosomy 17q23.1q23.2
Monosomy 17q23.1-Q23.2

Myasthenic Syndrome, Congenital, 6, Presynaptic

Familial Infantile Myasthenia	CMS6
Cmsea	Congenital Myasthenic Syndrome 6
Familial Infantile Myasthenia Gravis 2	Fimg2
Myasthenic Syndrome, Congenital, Associated With Episodic Apnea	Myasthenic Syndrome, Presynaptic, Congenital, Associated With Episodic Apnea
Congenital Myasthenic Syndrome Type Ia2, Formerly	Cms1a2, Formerly
Cms Ia2, Formerly	Myasthenia, Familial Infantile, Formerly
Fim, Formerly	Myasthenia Gravis, Familial Infantile, 2, Formerly
Fimg2, Formerly	Cms Ia2
Cms1a2	Congenital Myasthenic Syndrome 6, Presynaptic
Congenital Myasthenic Syndrome Type Ia2	Congenital Presynaptic Myasthenic Syndrome Associated With Episodic Apnea
Fim	Cms1a
Cms-Ea	Cms Ia
Congenital Myasthenic Syndrome Pre-Synaptic Associated With Episodic Apnea	Congenital Myasthenic Syndrome Type 1a
Congenital Myasthenic Syndrome Type Ia	Myasthenic Syndrome, Congenital, Type 6, Presynaptic

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08952	MYO9A Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MYO9A	RGD	RGD:621395
Mus musculus	MYO9A	MGD	MGI:107735
Canis familiaris	MYO9A	VGNC	VGNC:43574
Felis catus	MYO9A	VGNC	VGNC:68401
Bos taurus	MYO9A	VGNC	VGNC:97290
Macaca mulatta	MYO9A	VGNC	VGNC:75120

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