Sequence in raw or FASTA format:
ISPD isoprenoid synthase domain containing [Homo sapiens (human)]
|Entrez Gene ID||729920|
|Full Name||isoprenoid synthase domain containing|
|Synonyms||MDDGA7, Nip, hCG_1745121|
|General protein information|
|Organism||Homo sapiens (human)|
|Summary||This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012].|
|Homo sapiens (human)||ISPD||NP_001094896.1|
|Pan troglodytes (chimpanzee)||ISPD||XP_003318374.1|
|Macaca mulatta (Rhesus monkey)||ISPD||XP_001105001.2|
|Canis lupus familiaris (dog)||ISPD||XP_003431914.1|
|Bos taurus (cattle)||ISPD||XP_002686725.1|
|Mus musculus (house mouse)||Ispd||NP_848744.2|
|Rattus norvegicus (Norway rat)||Ispd||NP_001008387.1|
|Gallus gallus (chicken)||ISPD||XP_004939388.1|
|Danio rerio (zebrafish)||ispd||NP_001071270.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||ispd||NP_001016240.1|
|GO:0008299||isoprenoid biosynthetic process||IEA|
|GO:0035269||protein O-linked mannosylation||IMP|
What is the normal function of the ISPD gene?
The ISPD gene provides instructions for making a protein that is found in many of the body's tissues but is particularly abundant in the brain.
Although the function of the ISPD protein is unclear, researchers believe that it is involved in the modification of a protein called alpha (α)-dystroglycan. Specifically, ISPD is thought to aid in the addition of chains of sugar molecules to α-dystroglycan through a process known as glycosylation. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
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