KLHL7

The official name of this gene is “kelch-like family member 7.”

KLHL7 is the gene's official symbol. The KLHL7 gene is also known by other names, listed below.

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

Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the KLHL7 gene.

UniProt provides the following information about the KLHL7 gene's known or predicted involvement in human disease.

Retinitis pigmentosa 42 (RP42)^[1]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the KLHL7 gene.

• Retinitis pigmentosa 42^[1]

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]	612943	RETINITIS PIGMENTOSA 42
	611119	KELCH-LIKE 7

Cytogenetic Location: 7p15.3

Molecular Location on chromosome 7: base pairs 23,145,352 to 23,215,039

The KLHL7 gene is located on the short (p) arm of chromosome 7 at position 15.3.

More precisely, the KLHL7 gene is located from base pair 23,145,352 to base pair 23,215,039 on chromosome 7.

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

You and your healthcare professional may find the following resources about KLHL7 helpful.

• Genetic Testing Registry - Repository of genetic test information
  • GTR: Genetic tests for KLHL7

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

• OMIM - Genetic disorder catalog
  • KELCH-LIKE 7
  • RETINITIS PIGMENTOSA 42
• Research Resources - Tools for researchers
  • Atlas of Genetics and Cytogenetics in Oncology and Haematology
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

fundus ; gene ; ligase ; mediating ; peripheral ; photoreceptor ; pigment ; protein ; ubiquitin

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

See also Understanding Medical Terminology.