Home > Gene Browser > SLC25A1

SLC25A1

Synonyms
CMS23, CTP, D2L2AD, SEA, SLC20A3
External resources
Summary
This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants.

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
2
Likely pathogenic
0
VUS
1,021
Likely benign
3,517
Benign
97

Patient Phenotypes

Proportions of phenotypes among 2 patients carrying pathogenic or likely pathogenic variants on SLC25A1 gene are displayed below. The following symptoms were found in patients with a variant in SLC25A1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
100%
Abnormality of blood and blood forming tissues
50%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of the ear
50%
Abnormality of the eye
50%
Abnormality of the genitourinary system
50%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the nervous system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.