DCSTAMP

Chr 8

dendrocyte expressed seven transmembrane protein

Also known as: FIND, TM7SF4, hDC-STAMP

NCBI Gene: 81501 ENSG00000164935 UniProt: Q9H295 OMIM: 605933

The protein is a seven-pass transmembrane receptor that regulates cellular fusion and differentiation in immune cells, playing essential roles in osteoclast formation and bone resorption, myeloid cell differentiation, and dendritic cell antigen presentation. Mutations cause autosomal recessive osteopetrosis, a severe bone disease characterized by dense but brittle bones due to defective osteoclast function. The gene is highly intolerant to loss-of-function variants (pLI nearly 1.0), indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.16

LOEUF

Multiple*

Mechanism· predicted