ADSS1 - adenylosuccinate synthase 1 Gene

Homo sapiens

Also known as MPD5; ADSSL1

Gene ID: 122622 | Gene type: protein coding

About ADSS1

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:104,724,229-104,747,325 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in heart (RPKM 30.6), kidney (RPKM 9.0) and 12 other tissues.

Summary

This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific Enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

ADSS1 Products(3)

mRNA	Protein	Name
NM_001320424.1	NP_001307353.1	adenylosuccinate synthetase isozyme 1 isoform 3
NM_152328.5	NP_689541.1	adenylosuccinate synthetase isozyme 1 isoform 2
NM_199165.2	NP_954634.1	adenylosuccinate synthetase isozyme 1 isoform 1

ADSS1 Protein Structure

Adenylsucc_synt

0
100
200
300
400
457 a.a.

Protein Preferred Names

Protein Names

adenylosuccinate synthetase isozyme 1

AMPSase 1

Related Diseases

Diseases

Alias

Myopathy, Distal, 5

MPD5	Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Adssl1-Related Distal Myopathy

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]

Lidocaine Allergy

Lidoderm Allergy	Lignocaine Allergy
Xylocaine Allergy

Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement	MPD4
Williams Distal Myopathy	Distal Muscular Dystrophy 4
Distal Abd-Filaminopathy	Distal Myopathy 4
Myopathy, Distal, Type 4

Myopathy

Muscular Diseases

Myopathies

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

Myopathy, Distal, 3

MPD3	Distal Muscular Dystrophy 3
Distal Myopathy Type 3	Myopathy, Distal 3
Distal Myopathy 3	Finnish Upper Limb-Onset Distal Myopathy

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A	Hsan Ia
Hsan1	Hsn Ia
Hereditary Sensory And Autonomic Neuropathy Type 1a	Neuropathy, Hereditary Sensory And Autonomic, Type 1a
Neuropathy, Hereditary Sensory, Type Ia	Hsn1a
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a	Hereditary Sensory And Autonomic Neuropathy Type Ia
Neuropathy, Hereditary Sensory And Autonomic, 1a	Hereditary Sensory Neuropathy Type Ia
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a	Hsn1
Neuropathy, Sensory And Autonomic, Hereditary, Type 1a	Hereditary Sensory Autonomic Neuropathy, Type 1

Cystoisosporiasis

Isosporiasis	Infection By Isospora Belli And Isospora Hominis
Isosporosis	Infection By Isospora Belli Or Isospora Hominis
Isospora Belli Or Hominis Infection	Coccidial Infestation
Coccidiosis	Coccidial Dysentery
Intestinal Coccidiosis Nos

Muscular Dystrophy, Congenital, Megaconial Type

Megaconial Type Congenital Muscular Dystrophy	Congenital Megaconial Myopathy
Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect	Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities
Megaconial Congenital Muscular Dystrophy	MDCMC
Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities	Megaconial Congénital Muscular Dystrophy
Dystrophy, Muscular, Congenital, Megaconial Type

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

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-RS00419	ADSS1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ADSS1	VGNC	VGNC:25701
Mus musculus	ADSS1	MGD	MGI:87947
Canis familiaris	ADSS1	VGNC	VGNC:50440
Macaca mulatta	ADSS1	VGNC	VGNC:69644
Felis catus	ADSS1	VGNC	VGNC:104355
Rattus norvegicus	ADSS1	RGD	RGD:1590342

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