ADSSL1 (gene)

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Adenylosuccinate synthase like 1 is a protein that in humans is encoded by the ADSSL1 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].

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. PMID 15786719.
• 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.