ACTA1 - actin alpha 1, skeletal muscle Gene

Also Known as ACTA; ASMA; CFTD; MPFD; NEM1; NEM2; NEM3; SHPM; CFTD1; CFTDM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 58

About ACTA1

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:229,431,245-229,434,094 (from NCBI)

This gene has 3 transcripts (splice variants), 352 orthologues, 26 paralogues and is associated with 13 phenotypes. Biased expression in heart (RPKM 1670.9), esophagus (RPKM 297.6) and 1 other tissue.

Summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

ACTA1 Products (2)

mRNA Protein Name
NM_001100.4 NP_001091.1 actin, alpha skeletal muscle
NM_001100.4 NP_001091.1 actin, alpha skeletal muscle
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12849983 GOA
Biological Process GO Annotation Evidence References Source
involved in skeletal muscle thin filament assembly IMP
IMP: Inferred from mutant phenotype
11333380 GOA
Cellular Component GO Annotation Evidence References Source
located in actin cytoskeleton IMP
IMP: Inferred from mutant phenotype
15198992 GOA
located in actin filament IDA
IDA: Inferred from direct assay
12849983 GOA
located in sarcomere IDA
IDA: Inferred from direct assay
1423520 GOA
located in stress fiber IDA
IDA: Inferred from direct assay
15198992 GOA
located in striated muscle thin filament IDA
IDA: Inferred from direct assay
15198992 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTA1 Protein Structure

Actin

Actin: Actin (5 - 377)

  • 0
  • 100
  • 200
  • 300
  • 377 a.a.
Protein Preferred Names Protein Names

actin, alpha skeletal muscle

  • nemaline myopathy type 3

ACTA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ACTA1 P68133 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
ACTA1 P68133 CAMK2A Homo sapiens Q9UQM7 32814053
Intra
ACTA1 P68133 CAMK2A Homo sapiens Q9UQM7 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

ACTA1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81258 alpha Skeletal Muscle Actin Antibody (YA930) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P81258A alpha Skeletal Muscle Actin Antibody (YA931) IHC-P Human
HY-P81258AA alpha Skeletal Muscle Actin Antibody (YA931)(PBS only) IHC-P Human
HY-P85681 alpha Skeletal Muscle Actin Antibody (YA5373) WB, IHC-P, ICC/IF, IP Human, Mouse, Rat
HY-P85828 Actin Muscle Specific Antibody (YA5520) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat, Monkey, Bovin, Pig, Chick
HY-P85948 Actin pan Antibody (YA5640) IHC-P, WB, ICC/IF, ELISA Human, Mouse, Rat, Bovin, Pig, Chick

Related Diseases

Diseases Alias
Myopathy, Scapulohumeroperoneal
  • Progressive Scapulohumeroperoneal Distal Myopathy

  • SHPM

Nemaline Myopathy 3
  • Nemaline Myopathy 3, Autosomal Dominant Or Recessive

  • Congenital Myopathy With Excess Of Thin Filaments

  • NEM3

  • Myopathy, Actin, Congenital, With Cores

  • Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

  • Actin-Accumulation Myopathy

  • Actin Myopathy

  • Actin Accumulation Myopathy

  • Actin Filament Aggregate Myopathy

  • Nemaline Myopathy, Type 3

  • MPCETM

  • Acta1-Related Nemaline Myopathy

  • Actin Myopathy Congenital With Cores

  • Nemaline Myopathy 3 With Intranuclear Rods

  • Myopathy, Nemaline, Type 3

Myopathy, Congenital, With Fiber-Type Disproportion
  • CFTD

  • Fiber-Type Disproportion Myopathy, Congenital

  • Cftdm

  • Myopathy, Congenital, With Fiber-Type Disproportion 1

  • Congenital Fiber-Type Disproportion Myopathy

  • Myopathy, Congenital, With Fiber Type Disproportion

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

Zebra Body Myopathy
Childhood-Onset Nemaline Myopathy
  • Mild Nemaline Myopathy

  • Nemaline Myopathy, Childhood Onset

Typical Congenital Nemaline Myopathy
  • Typical Nemaline Myopathy

Intermediate Congenital Nemaline Myopathy
  • Intermediate Nemaline Myopathy

  • Intermediate Congenital Nm

Severe Congenital Nemaline Myopathy
  • Severe Congenital Nm

Rigid Spine Muscular Dystrophy 1
  • Rigid Spine Syndrome

  • RSMD1

  • Rss

  • Mdrs1

  • Eichsfeld Type Congenital Muscular Dystrophy

  • Desmin-Related Myopathy With Mallory Bodies

  • Classic Multiminicore Myopathy

  • Sepn1-Related Myopathy

  • Multicore Myopathy, Severe Classic Form

  • Minicore Myopathy, Severe Classic Form

  • Multiminicore Disease, Severe Classic Form

  • Muscular Dystrophy, Rigid Spine, 1

  • Classic Mmd

  • Classic Multiminicore Disease

  • Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

  • Desmin-Related Myopathy With Mallory Body-Like Inclusions

  • Early-Onset Desmin-Related Myopathy

  • Myopathy, Sepn1-Related

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Muscular Dystrophy, Congenital, Eichsfeld Type

  • Severe Classic Form Minicore Myopathy

  • Severe Classic Form Multicore Myopathy

  • Severe Classic Form Multiminicore Disease

  • Desmin-Related Myopathies With Mallory Bodies

  • Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

  • Rigid Spine Muscular Dystrophy-1

  • Rigid Spine Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Eichsfeld Type

  • Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

  • Minicore Myopathy Severe Classic Form

  • Multicore Myopathy Severe Classic Form

  • Multiminicore Disease Severe Classic Form

  • Dystrophy, Muscular, Rigid Spine, Type 1

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Hydrops Fetalis, Nonimmune
  • Hydrops Fetalis

  • Non-Immune Hydrops Fetalis

  • NIHF

  • Familial Non-Immune Hydrops Fetalis

  • Hydrops Fetalis Nonimmune

  • Idiopathic Hydrops Fetalis

  • Hb Bart'S Hydrops Fetalis

  • Alpha-Thalassemia Hydrops Fetalis

  • Alpha-Thalassemia Major

  • Hemoglobin Bart'S Hydrops Fetalis

  • Homozygous Alpha0-Thalassemia

  • Fetal Anasarca

  • Fetal Hydrops

  • Generalized Fetal Edema

  • Hf

  • Non-Immune Hf

  • Non-Immune Fetal Edema

  • Non-Immune Fetal Hydrops

  • Hydrops Fetalis, Non-Immune

  • Hemoglobin Bart'S Hydrops Syndrome

Fetal Akinesia Deformation Sequence 1
  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Nemaline Myopathy
  • Rod Myopathy

  • Nemaline Body Disease

  • Nemaline Rod Myopathy

  • Myopathies, Nemaline

  • Nm

  • Nemaline Rod Disease

  • Rod Body Disease

  • Rod-Body Myopathy

  • Myopathy, Nemaline

  • Congenital Rod Disease

  • Nem

  • Nemaline Bodies

  • Myopathies Nemaline

Congenital Myopathy With Cores
Rigid Spine Muscular Dystrophy
  • Congenital Muscular Dystrophy With Spine Rigidity Syndrome

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Rigid Spinal Muscular Dystrophy

  • Rigid Spine Congenital Muscular Dystrophy

  • Rsmd

  • Congenital Muscular Dystrophy With Rigid Spine

  • Dystrophy, Muscular, Rigid Spine

Myopathy
  • Muscular Diseases

  • Myopathies

Listeriosis
  • Listeria Infection

  • Infection By Listeria Monocytogenes

  • Listeria Monocytogenes Infection

  • Listeria Infections

  • Listerial Foodborne Infection

  • Circling Disease

  • Infection Due To Listeria Monocytogenes

  • Listerellosis

Foot Drop
Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
  • Aoa2

  • Ataxia With Oculomotor Apraxia Type 2

  • Scar1

  • SCAN2

  • Ataxia-Oculomotor Apraxia 2

  • Ataxia-Ocular Apraxia 2

  • Ataxia-Oculomotor Apraxia Type 2

  • Scan 2

  • Spinocerebellar Ataxia With Axonal Neuropathy Type 2

  • Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

  • Scar1, Formerly

  • Autosomal Recessive Spinocerebellar Ataxia-1

  • Spinocerebellar Ataxia, Autosomal Recessive, 1

  • Ataxia-Ocular Apraxia-2

  • Spinocerebellar Ataxia, Autosomal Recessive 1

Congenital Structural Myopathy
Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

Prostate Angiosarcoma
  • Prostatic Hemangiosarcoma

Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Lipoma Of Spermatic Cord
  • Spermatic Cord Lipoma

Paratesticular Lipoma
Colon Leiomyosarcoma
  • Colonic Leiomyosarcoma

Hypotonia
Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

Hyaline Body Myopathy
  • Myosin Storage Myopathy

  • Autosomal Dominant Hyaline Body Myopathy

  • Myopathy, Myosin Storage

Prostate Leiomyoma
  • Prostatic Leiomyoma

Multiminicore Disease
  • Multiminicore Myopathy

  • Mmd

  • Minicore Disease

  • Minicore Myopathy

  • Multi-Core Congenital Myopathy

  • Multi-Core Disease

  • Multi-Minicore Disease

  • Multicore Disease

  • Multicore Myopathy

  • Minicore Myopathy With External Ophthalmoplegia

Breast Myoepithelial Carcinoma
Central Core Disease Of Muscle
  • Central Core Disease

  • Central Core Myopathy

  • CCD

  • Cco

  • Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

  • Myopathy, Central Core

  • Shy-Magee Syndrome

  • Muscle Core Disease

  • Muscular Central Core Disease

  • Myopathy, Central Fibrillar

  • Shy'S Disease

  • Moderate Multiminicore Disease With Hand Involvement

Amelogenesis Imperfecta, Type Ie
  • Aih1

  • Amelogenesis Imperfecta Type 1e

  • AI1E

  • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

  • Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

  • Enamel Hypoplasia, X-Linked

  • Amelogenesis Imperfecta Type Ie

  • Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

  • Enamel Hypoplasia X-Linked

  • Amelogenesis Imperfecta, X-Linked 1

  • Amelogenesis Imperfecta, Type 1e

  • Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

  • X-Linked Amelogenesis Imperfecta 1

  • X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

  • X-Linked Enamel Hypoplasia

  • Amelogenesis Imperfecta X-Linked 1

  • Amelogenesis Imperfecta 1e

  • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

  • Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

  • Xai

  • X-Linked Amelogenesis Imperfecta

  • Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
  • Jacobs Syndrome

  • Arthropathy-Camptodactyly Syndrome

  • Pericarditis-Arthropathy-Camptodactyly Syndrome

  • Xyy Syndrome

  • Pac Syndrome

  • Cacp Syndrome

  • CACP

  • Fibrosing Serositis, Familial

  • Camptodactyly-Arthropathy-Pericarditis Syndrome

  • Cap Syndrome

  • 47, Xyy Syndrome

  • 47,Xyy Syndrome

  • Double Y Syndrome

  • Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

  • Hypertrophic Synovitis, Congenital Familial

  • Congenital Familial Hypertrophic Synovitis

  • Xyy Karyotype

  • Y Disomy

  • Yy Syndrome

  • Familial Fibrosing Serositis

  • Disomy Y

  • Double Y

  • Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

  • Arthropathy Camptodactyly Syndrome

  • Camptodactyly Arthropathy Pericarditis Syndrome

  • Pericarditis Arthropathy Camptodactyly Syndrome

  • Jacob'S Syndrome

  • 47,Xyy

  • Cdags Syndrome

Cardiomyopathy, Dilated, 2a
  • Dilated Cardiomyopathy 2a

  • CMD2A

  • Cardiomyopathy, Dilated, Autosomal Recessive

  • Cardiomyopathy, Congestive, Autosomal Recessive

  • Cardiomyopathy, Dilated 2a

  • Cardiomyopathy, Dilated, Type 2a

  • Autosomal Recessive Dilated Cardiomyopathy

Nemaline Myopathy 2
  • NEM2

  • Nemaline Myopathy 2, Autosomal Recessive

  • Nemaline Myopathy, Type 2

  • Neb-Related Nemaline Myopathy

  • Myopathy, Nemaline, Type 2

Cardiomyopathy, Dilated, 1ff
  • Dilated Cardiomyopathy 1ff

  • CMD1FF

  • Cardiomyopathy, Dilated 1ff

  • Cardiomyopathy, Dilated, Type 1ff

Respiratory Failure
  • Acute Respiratory Failure

  • Chronic Respiratory Failure

  • Respiratory Insufficiency

  • Acute-On-Chronic Respiratory Failure

  • Respiratory Disease

  • Acute And Chronic Respiratory Failure

  • Respiratory Insufficiency/Failure

  • Chronic Respiratory Disease

  • Pulmonary Valve Insufficiency

  • Chronic Disease Of Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

  • Lung Failure Nos

  • Pulmonary Failure

  • Arf - [Acute Respiratory Failure]

  • Acute Respiratory Insufficiency

  • Acute Pulmonary Insufficiency

  • Acute Respiration Failure

  • Chronic Respiration Failure

Scapuloperoneal Myopathy
Benign Fibrous Mesothelioma
  • Fibrous Mesothelioma, Benign

  • Localized Benign Fibrous Mesothelioma

  • Solitary Fibrous Tumor, Pleural

  • Pleural Solitary Fibrous Tumor

  • Solitary Fibrous Tumor

Hydrops Of Gallbladder
  • Gallbladder Hydrops

Muscular Dystrophy, Congenital, Lmna-Related
  • Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Due To Lmna Mutation

  • MDCL

  • L-Cmd

  • Lmna-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital

  • Congenital Muscular Dystrophy Lmna-Related

  • Lmna-Related Cmd

  • Cmd

  • Mdc

  • Muscular Dystrophy Congenital Lmna-Related

  • Dystrophy, Muscular, Congenital, Lmna-Related

  • Dystrophy, Muscular, Congenital

  • Hereditary Muscular Dystrophy

  • Congenital Hereditary Muscular Dystrophy

  • Congenital Progressive Muscular Dystrophy

  • Hereditary Progressive Muscular Dystrophy

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Facioscapulohumeral Muscular Dystrophy 1
  • Facioscapulohumeral Muscular Dystrophy

  • Fshd

  • Landouzy-Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Facioscapulohumeral

  • FSHD1

  • Fshd1a

  • Muscular Dystrophy, Facioscapulohumeral, Type 1a

  • Facioscapulohumeral Muscular Dystrophy Type 1a

  • Fsh Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy 1a

  • Facioscapulohumeral Atrophy

  • Facioscapulohumeral Myopathy

  • Muscular Dystrophy, Facioscapulohumeral, Type 1

  • Facioscapulohumeral Muscular Dystrophy Type 1

  • Landouzy Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Landouzy-Dejerine

  • Fshmd1a

  • Facio-Scapulo-Humeral Dystrophy

  • Facioscapulohumeral Type Progressive Muscular Dystrophy

  • Facioscapuloperoneal Muscular Dystrophy

  • Facioscapulohumeral Dystrophy

  • Fsh Dystrophy

  • Landouzy-Dejerine Dystrophy

  • Landouzy-Dejerine Myopathy

  • Fmd

  • Facioscapulohumeral Muscular Dystrophy-1a

  • Muscular Dystrophy Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral, Type 1

  • Landouzy-Dejerine Disease

  • Landouzy-Déjerine Atrophy

  • Facioscapulohumeral Muscle Dystrophy

  • Fmd - [Facioscapulohumeral Muscular Dystrophy]

  • Fsh - [Facioscapulohumeral Muscular Dystrophy]

  • Fshd - [Facioscapulohumeral Muscular Dystrophy]

  • Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

  • Landouzy-Déjérine Muscular Dystrophy

Myopathy, Distal, 1
  • Laing Distal Myopathy

  • Laing Early-Onset Distal Myopathy

  • MPD1

  • Distal Myopathy 1

  • Myopathy, Distal, Early-Onset, Autosomal Dominant

  • Distal Myopathy Type 1

  • Gowers Disease

  • Myopathy, Late Distal Hereditary

  • Myopathy Distal, Type 1

  • Myopathy Distal Early-Onset Autosomal Dominant

  • Myopathy Late Distal Hereditary

  • Myopathy, Distal, Type 1

  • Welander Distal Myopathy

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Gastric Liposarcoma
  • Liposarcoma Of The Stomach

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

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]

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

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

Primary Biliary Cholangitis
  • Primary Biliary Cirrhosis

  • Biliary Liver Cirrhosis

  • Chronic Nonsuppurative Destructive Cholangitis

  • Familial Primary Biliary Cirrhosis

  • Pbc

  • Hanot Syndrome

  • Cholestatic Cirrhosis

  • Biliary Cirrhosis Primary

  • Liver Cirrhosis, Biliary

  • Hanot'S Cirrhosis

  • Biliary Cirrhosis

  • Pericholangiolic Biliary Cirrhosis

  • Tannhauser-Magendantz Syndrome

  • Hanot-Rossle Syndrome

  • Hypertrophic Cirrhosis

  • Todd Cirrhosis

  • Hanot Cirrhosis

  • Charcot Cirrhosis

  • Mahon-Tannhauser Syndrome

  • Toxic Cirrhosis

  • Hypertrophic Biliary Cirrhosis

  • Monolobular Cirrhosis

  • Unilobar Cirrhosis

  • Xanthomatous Biliary Cirrhosis

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

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

Orthologs Information

Species Symbol Source ID
Bos taurus ACTA1 VGNC VGNC:25573
Canis familiaris ACTA1 VGNC VGNC:37538
Rattus norvegicus ACTA1 RGD RGD:2025
Mus musculus ACTA1 MGD MGI:87902
Macaca mulatta ACTA1 VGNC VGNC:69387
Felis catus ACTA1 VGNC VGNC:59541
Others ACTA1 NCBI