Meyahealth
HomeGeneticsGeneKCTD1 gene
Back to Gene
KCTD1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KCTD1 gene

The KCTD1 gene provides essential instructions for a protein that regulates embryonic development, and mutations in this gene are linked to scalp-ear-nipple syndrome.

Normal Function

The KCTD1 gene provides instructions for making a protein that acts as a transcriptional repressor, meaning it turns off the activity of certain genes when they are not needed. A region of the KCTD1 protein called the BTB domain is essential for this repressor function.

The KCTD1 protein is thought to control the activity of genes involved in the development of an embryonic cell layer called the ectoderm. Within the developing embryo, the ectoderm gives rise to several body tissues, including the skin, hair, nails, and teeth.

Health Conditions Related to Genetic Changes

Scalp-ear-nipple syndrome

At least 10 mutations in the KCTD1 gene have been identified in people with scalp-ear-nipple syndrome, a condition characterized by abnormalities of the scalp, ears, and nipples. Key aspects of this condition include:

  • Mechanism: Mutations affect the BTB domain of the KCTD1 protein, impairing its transcriptional repressor function.
  • Developmental Impact: This impairment results in abnormal regulation of genes involved in ectodermal development.
  • Ectodermal Dysplasia: The altered gene activity disrupts the normal development of tissues arising from the ectoderm, leading to the signs and symptoms of the syndrome.

Other Names for This Gene

  • C18orf5
  • potassium channel tetramerisation domain containing 1
  • potassium channel tetramerization domain-containing protein 1
  • SENS

Frequently Asked Questions

Scalp‑ear‑nipple syndrome follows an autosomal dominant pattern, meaning a single copy of the mutated gene can cause the disorder. If one parent carries the mutation, there is a 50 % chance of passing it to each child. Genetic counseling and prenatal testing (e.g., chorionic villus sampling or amniocentesis) can help families assess risk.
Current management is largely supportive: dermatologic care for scalp and skin issues, audiologic evaluation and hearing aids for ear problems, and surgical correction for nipple or ear malformations if needed. Gene‑based therapies are not yet available, but ongoing research into transcriptional modulators may offer future options.
Patients with KCTD1 mutations often present with distinctive scalp abnormalities such as sparse or missing hair, ear malformations like microtia or conductive hearing loss, and nipple anomalies such as hypoplasia or absence. These features usually appear at birth or early childhood and can be confirmed by a clinical examination and imaging studies.
targeted next‑generation sequencing panel that includes KCTD1 is the most common test. Blood or saliva samples are collected in a sterile tube; the sample should be kept refrigerated and sent to a certified laboratory within 48 hours. The results will identify specific point mutations or small deletions in the BTB domain.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ