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TULP1

TULP1

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

What is the official name of the TULP1 gene?

The official name of this gene is “tubby like protein 1.”

TULP1 is the gene's official symbol. The TULP1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TULP1 gene?

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

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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

Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages.

How are changes in the TULP1 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the TULP1 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TULP1 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 14 (RP14): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry.

Leber congenital amaurosis 15 (LCA15): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TULP1 gene.
  • Leber congenital amaurosis 15
  • Retinitis pigmentosa 14
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the TULP1 gene and its association with health conditions.
OMIM
Number
Title

Where is the TULP1 gene located?

Cytogenetic Location: 6p21.3

Molecular Location on chromosome 6: base pairs 35,497,873 to 35,512,901

The TULP1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

The TULP1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

More precisely, the TULP1 gene is located from base pair 35,497,873 to base pair 35,512,901 on chromosome 6.

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

Where can I find additional information about TULP1?

You and your healthcare professional may find the following resources about TULP1 helpful.

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

What other names do people use for the TULP1 gene or gene products?

  • LCA15
  • RP14
  • TUBL1

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 TULP1?

alternative splicing ; amino acid ; congenital ; cytoskeleton ; epithelium ; fundus ; gene ; in vitro ; juvenile ; keratoconus ; nystagmus ; peripheral ; phagocytosis ; phosphate ; photophobia ; photoreceptor ; pigment ; protein ; retina ; splicing ; transcript

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: June 29, 2015