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SPRED1
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SPRED1

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

On this page:

What is the official name of the SPRED1 gene?

The official name of this gene is “sprouty-related, EVH1 domain containing 1.”

SPRED1 is the gene's official symbol. The SPRED1 gene is also known by other names, listed below.

What is the normal function of the SPRED1 gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow.

How are changes in the SPRED1 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the SPRED1 gene's involvement in human disease.

Defects in SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS)[1]This link leads to a site outside Genetics Home Reference.. Neurofibromatosis type 1 (NF1) is one of the most frequent autosomal dominant diseases. It belongs to the group of disorders known as the 'neuro-cardio-facial-cutaneous' syndromes, present with a variable degree of cognitive impairment, facial dysmorphism, congenital heart defects and skin abnormalities. NFLS is a form of these disorders with autosomal dominant trait consisting of multiple cafe-au-lait spots, axillary freckling, macrocephaly and a Noonan-like dysmorphy in some individuals.

Entrez GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known to be associated with changes in the SPRED1 gene.
  • Legius syndrome[1]This link leads to a site outside Genetics Home Reference.
  • Neurofibromatosis, type 1-like syndrome[1]This link leads to a site outside Genetics Home Reference.
UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]611431This link leads to a site outside Genetics Home Reference.LEGIUS SYNDROME

Where is the SPRED1 gene located?

Cytogenetic Location: 15q14

Molecular Location on chromosome 15: base pairs 38,545,051 to 38,649,449

The SPRED1 gene is located on the long (q) arm of chromosome 15 at position 14.

The SPRED1 gene is located on the long (q) arm of chromosome 15 at position 14.

More precisely, the SPRED1 gene is located from base pair 38,545,051 to base pair 38,649,449 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SPRED1?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SPRED1 gene or gene products?

  • FLJ33903
  • NFLS

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SPRED1?

autosomal ; autosomal dominant ; bone marrow ; cardio- ; congenital ; cutaneous ; gene ; growth factor ; kinase ; macrocephaly ; protein ; syndrome ; trait ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: November 20, 2009