ADSSL1 gene

adenylosuccinate synthase like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.

From NCBI Gene:

  • Myopathy, distal, 5

From UniProt:

Myopathy, distal, 5 (MPD5): A form of distal myopathy, a group of muscular disorders characterized by progressive muscular weakness and muscle atrophy beginning in the hands, the legs or the feet. MPD5 is an autosomal recessive form, predominantly affecting the lower limbs. [MIM:617030]

Cytogenetic Location: 14q32.33, which is the long (q) arm of chromosome 14 at position 32.33

Molecular Location: base pairs 104,724,197 to 104,747,325 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q32.33, which is the long (q) arm of chromosome 14 at position 32.33