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HTT huntingtin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002111 Homo sapiens huntingtin (HTT), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol HTT
Entrez Gene ID 3064
Full Name huntingtin
Synonyms HD, IT15
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16.3

Summary Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008].
Disorder

MIM: 613004

Huntington disease, 143100 (3)

mRNA Protein Product Sequence Price Select
NM_002111, 90903230 NP_002102, 90903231 huntingtin ORF Sequence $4500.00
KEGG
hsa05016Huntington's disease
WikiPathways
WP437EGFR1 Signaling Pathway
Pathway Interaction Database
p53downstreampathwayDirect p53 effectors
Homo sapiens (human)HTTNP_002102.4
Pan troglodytes (chimpanzee)HTTXP_517080.4
Macaca mulatta (Rhesus monkey)HTTXP_001086119.2
Canis lupus familiaris (dog)HTTXP_536221.2
Bos taurus (cattle)HTTXP_002688476.1
Mus musculus (house mouse)HttNP_034544.1
Rattus norvegicus (Norway rat)HttNP_077333.2
Gallus gallus (chicken)HTTXP_420822.3
Danio rerio (zebrafish)httNP_571093.1
GeneCards HTT
PDB 4FED, 3IO4, 2D3X, 3IOU, 3IOV, 2LD2, 3IOW, 4FEB, 3IOT, 3IOR, 4FE8, 3LRH, 4FEC, 2LD0, 3IO6
UniProt P42858
MIM 613004
Ensembl ENSG00000197386
HGNC 4851
HPRD 00883

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

General protein information

Preferred Names
huntingtin
Names
huntingtin
huntington disease protein

Interactant



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