TLCD3A

Chr 17

TLC domain containing 3A

Also known as: CT120, FAM57A

NCBI Gene: 79850 ENSG00000167695 UniProt: Q8TBR7 OMIM: 611627

The TLCD3A protein is a membrane-associated protein involved in amino acid transport and glutathione metabolism through interactions with solute carrier proteins and gamma-glutamyltranspeptidase-like enzymes. Mutations in this gene have not been definitively associated with recognized pediatric neurological disorders based on the available information. The gene shows moderate constraint against loss-of-function mutations (LOEUF 0.649), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

Multiple*

Mechanism· predicted