ADSS1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesADSS1, adenylosuccinate synthase like 1, MPD5, adenylosuccinate synthase 1, ADSSL1
External IDsOMIM: 612498 MGI: 87947 HomoloGene: 111992 GeneCards: ADSS1
Orthologs
SpeciesHumanMouse
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 MbChr 12: 112.59 – 112.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Adenylosuccinate synthase like 1 is a protein that in humans is encoded by the ADSS1 gene. [5]

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) [6] is currently working with a team of researchers to find a cure. Refer to the link below to find more information about this foundation.


References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000185100 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000011148 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Adenylosuccinate synthase like 1". Retrieved 2018-04-09.
  6. "Cure ADSSL1". Retrieved 2022-01-30.

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.


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