ADSSL1 (gene)

ADSS1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2GJO
Identifiers
Aliases	ADSS1, adenylosuccinate synthase like 1, MPD5, adenylosuccinate synthase 1, ADSSL1
External IDs	OMIM: 612498 MGI: 87947 HomoloGene: 111992 GeneCards: ADSS1
Gene location (Human) Chr. Chromosome 14 (human) Band 14q32.33 Start 104,724,229 bp End 104,747,325 bp
Gene location (Mouse) Chr. Chromosome 12 (mouse) Band 12|12 F1 Start 112,586,479 bp End 112,607,794 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vastus lateralis muscle tibialis anterior muscle biceps brachii deltoid muscle gastrocnemius muscle body of tongue popliteal artery right ventricle ascending aorta sperm Top expressed in triceps brachii muscle ankle extensor digitorum longus muscle sternocleidomastoid muscle vastus lateralis muscle temporal muscle gastrocnemius muscle plantaris muscle digastric muscle tibialis anterior muscle More reference expression data BioGPS n/a
Gene ontology Molecular function phosphate ion binding nucleotide binding protein homodimerization activity GTP binding metal ion binding actin filament binding ligase activity GTPase activity adenylosuccinate synthase activity magnesium ion binding Cellular component cytoplasm cytosol Biological process purine nucleotide biosynthetic process aspartate metabolic process immune system process 'de novo' AMP biosynthetic process glutamine metabolic process purine ribonucleoside monophosphate biosynthetic process response to starvation IMP metabolic process AMP biosynthetic process purine nucleotide metabolic process response to muscle activity cellular response to electrical stimulus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 122622 11565 Ensembl ENSG00000185100 ENSMUSG00000011148 UniProt Q8N142 P28650 RefSeq (mRNA) NM_152328 NM_199165 NM_001320424 NM_007421 RefSeq (protein) NP_001307353 NP_689541 NP_954634 NP_031447 Location (UCSC) Chr 14: 104.72 – 104.75 Mb Chr 12: 112.59 – 112.61 Mb PubMed search
Wikidata
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Adenylosuccinate synthase like 1 is a protein that in humans is encoded by the ADSS1 gene.

Function

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].

Currently there is no treatment for the distal myopathy caused by the mutation in ADSSL1 gene. However, a non-profit foundation (Cure-ADSSL1.org) is currently working with a team of researchers to find a cure. Refer to the link below to find more information about this foundation.

Further reading

• Sun H, Li N, Wang X, Chen T, Shi L, Zhang L, Wang J, Wan T, Cao X (January 2005). "Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells". Mol. Cell. Biochem. 269 (1–2): 85–94. doi:10.1007/s11010-005-2539-9. PMID 15786719. S2CID 23759463.
• Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO (February 2016). "ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy". Ann. Neurol. 79 (2): 231–43. doi:10.1002/ana.24550. PMID 26506222.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.