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Sequence in raw or FASTA format:

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ISPD isoprenoid synthase domain containing [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001101417 Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_001101426 Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006715770 PREDICTED: Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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Gene Symbol ISPD
Entrez Gene ID 729920
Full Name isoprenoid synthase domain containing
Synonyms MDDGA7, Nip, hCG_1745121
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

7

7p21.2

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].
Disorder

MIM: 614631

mRNA Protein Product Sequence Price Select
NM_001101417, 226246624 NP_001094887, 157671913 isoprenoid synthase domain-containing protein isoform b ORF Sequence $400.00
NM_001101426, 226246625 NP_001094896, 157412259 isoprenoid synthase domain-containing protein isoform a ORF Sequence $550.00
XM_006715770, 578813614 XP_006715833, 578813615 isoprenoid synthase domain-containing protein isoform X1 ORF Sequence $400.00
Homo sapiens (human)ISPDNP_001094896.1
Pan troglodytes (chimpanzee)ISPDXP_003318374.1
Macaca mulatta (Rhesus monkey)ISPDXP_001105001.2
Canis lupus familiaris (dog)ISPDXP_003431914.1
Bos taurus (cattle)ISPDXP_002686725.1
Mus musculus (house mouse)IspdNP_848744.2
Rattus norvegicus (Norway rat)IspdNP_001008387.1
Gallus gallus (chicken)ISPDXP_004939388.1
Danio rerio (zebrafish)ispdNP_001071270.1
Xenopus (Silurana) tropicalis (western clawed frog)ispdNP_001016240.1
Process
IDNameEvidence
GO:0007411axon guidanceIEA
GO:0008299isoprenoid biosynthetic processIEA
GO:0035269protein O-linked mannosylationIMP
Function
IDNameEvidence
GO:0016779nucleotidyltransferase activityIEA
GeneCards ISPD
UniProt A4D126
MIM 614631
HGNC 37276

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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