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EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001039348 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_001039349 Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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Related Services

Gene Symbol EFEMP1
Entrez Gene ID 2202
Full Name EGF containing fibulin-like extracellular matrix protein 1
Synonyms DHRD, DRAD, FBLN3, FBNL, FLJ35535, MGC111353, MLVT, MTLV, S1-5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2p16

Summary This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009].
Disorder

MIM: 601548

Doyne honeycomb degeneration of retina, 126600 (3)

mRNA Protein Product Sequence Price Select
NM_001039348, 320118885 NP_001034437, 86788015 EGF-containing fibulin-like extracellular matrix protein 1 precursor ORF Sequence $360.00
NM_001039349, 320118886 NP_001034438, 86788132 EGF-containing fibulin-like extracellular matrix protein 1 precursor ORF Sequence $360.00
Homo sapiens (human)EFEMP1NP_001034437.1
Pan troglodytes (chimpanzee)EFEMP1XP_001156698.1
Pan troglodytes (chimpanzee)LOC455416XP_512129.2
Canis lupus familiaris (dog)EFEMP1XP_531834.1
Bos taurus (cattle)EFEMP1NP_001075186.1
Mus musculus (house mouse)Efemp1NP_666127.2
Rattus norvegicus (Norway rat)Efemp1NP_001012039.1
Gallus gallus (chicken)EFEMP1XP_426097.3
Danio rerio (zebrafish)LOC100332567XP_002664117.1
GeneCards EFEMP1
UniProt B2R6M6, Q12805
MIM 601548
Ensembl ENSG00000115380
HGNC 3218
HPRD 03331

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

General protein information

Preferred Names
EGF-containing fibulin-like extracellular matrix protein 1
Names
EGF-containing fibulin-like extracellular matrix protein 1
fibulin-3
extracellular protein S1-5

Interactant



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