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KRT83

Synonyms
EKVP5, HB3, Hb-3, KRTHB3, MNLIX
External resources
Summary
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
11
Likely pathogenic
4
VUS
947
Likely benign
265
Benign
124

Patient Phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on KRT83 gene are displayed below. The following symptoms were found in patients with a variant in KRT83. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.7%
Abnormality of the eye
33.3%
Abnormality of head or neck
26.7%
Abnormality of the integument
26.7%
Abnormality of the cardiovascular system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the ear
13.3%
Abnormality of limbs
6.7%
Abnormality of metabolism homeostasis
6.7%
Abnormality of the digestive system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the genitourinary system
6.7%
Growth abnormality
6.7%
Neoplasm
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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