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SLC7A11

Synonyms
CCBR1, xCT
External resources
Summary
This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death.

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
6
Likely pathogenic
0
VUS
3,980
Likely benign
288
Benign
0

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on SLC7A11 gene are displayed below. The following symptoms were found in patients with a variant in SLC7A11. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
33.3%
Abnormality of the eye
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of limbs
16.7%
Abnormality of the cardiovascular system
16.7%
Growth abnormality
16.7%
Neoplasm
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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