Gene: CCDC102B

Alternate names for this Gene: ACY1L|AN|C18orf14|HsT1731

Gene Summary:

Gene is located in Chromosome: 18

Location in Chromosome : 18q22.1-q22.2

Description of this Gene: coiled-coil domain containing 102B

Type of Gene: protein-coding

Gene: TMX3

Alternate names for this Gene: PDIA13|TXNDC10

Gene Summary: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 18

Location in Chromosome : 18q22.1

Description of this Gene: thioredoxin related transmembrane protein 3

Type of Gene: protein-coding