Gene: SLC25A1

Alternate names for this Gene: CMS23|CTP|D2L2AD|SEA|SLC20A3

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: solute carrier family 25 member 1

Type of Gene: protein-coding

Gene: CLTCL1

Alternate names for this Gene: CHC22|CLH22|CLTCL|CLTD

Gene Summary: This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: clathrin heavy chain like 1

Type of Gene: protein-coding