TMEM104
Description
The TMEM104 (transmembrane protein 104) is a protein-coding gene located on chromosome 17.
The TMEM104 gene is located on chromosome 17 at 17q25.1, between the NAT9 and GRIN2C genes. It has seven main transcription variants: isoform 1, isoform 2, and variants X1-X5. TMEM104 is conserved in eukaryotes, with a 163,255 base pair long gene coding sequence, 4703 base pair long mRNA, and 496 amino acid long protein sequence. Its expression levels are modest in most human tissues, as per RNA-seq data.
TMEM104 has a moderate expression level in most human tissues. Its promoter region, located 150 base pairs upstream of the transcription start site, shows limited conservation outside of mammalian species, primarily within primates.
TMEM104 is also known as SLC38A12.
Associated Diseases
- hereditary hyperferritinemia with congenital cataracts
- cochleosaccular degeneration-cataract syndrome
- granular corneal dystrophy type I
- aniridia
- cataract 5 multiple types
- congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
