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GlossarySPINK5

gene encoding a protein that inhibits specific protein-degrading enzymes

SPINK5 stands for Serine Peptidase Inhibitor, Kazal Type 5. It is a gene that encodes a protein involved in inhibiting certain enzymes that break down proteins. Mutations in the SPINK5 gene can lead to Netherton syndrome, a condition characterized by skin abnormalities, hair defects, and a predisposition to allergies.

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research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities

3 citations, September 2017 in “Archives of dermatological research”

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

Bamboo Hair Syndrome or Netherton Syndrome: A Case Report

research Bamboo Hair Syndrome or Netherton Syndrome: A Case Report

April 2017 in “IOSR journal of dental and medical sciences”

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Current Genetics in Hair Diseases

research Current Genetics in Hair Diseases

1 citations, February 2013 in “InTech eBooks”

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

Office Diagnosis of Hair Shaft Defects

research Office Diagnosis of Hair Shaft Defects

33 citations, March 2006 in “Seminars in cutaneous medicine and surgery”

The document explains how to identify different hair problems using a microscope.

research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank

November 2022 in “Journal of Investigative Dermatology”

Rare genetic variants in 125 genes are linked to male-pattern hair loss.

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