Recombinant Human Cystinosin (CTNS), Truncated

Uniprot Id

O60931

Target Species

Human

Target Name

CTNS

Target Full Name

Cystinosin

Target Function

Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes. Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis. In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes. Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity.

Target Involvement

Cystinosis, nephropathic type (CTNS); Cystinosis, adult, non-nephropathic type (CTNSANN); Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)

Target Subcellular Location

[Isoform 1]: Lysosome membrane; Multi-pass membrane protein. Melanosome membrane; Multi-pass membrane protein.; [Isoform 2]: Lysosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Target Protein Families

Cystinosin family

Target Tissue Specificity

Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal).; [Isoform 2]: Represents 5-20 % of CTNS

Target Synonyms

CTNS; Cystinosin

Target Background

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants.