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CD164

Function

Sialomucin that may play a key role in hematopoiesis by facilitating the adhesion of CD34(+) cells to the stroma and by negatively regulating CD34(+)CD38(lo/-) cell proliferation. Modulates the migration of umbilical cord blood CD133+ cells and this is mediated through the CXCL12/CXCR4 axis. May play an important role in prostate cancer metastasis and the infiltration of bone marrow by cancer cells. Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes (By similarity).

Involvement in disease

Deafness, autosomal dominant, 66

DFNA66

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Highly N- and O-glycosylated; contains sialic acid.

The motif Ser-Gly may serve as the site of attachment of a glycosaminoglycan side chain.

Sequence Similarities

Belongs to the CD164 family.

Tissue Specificity

Isoform 1 and isoform 3 are expressed in hematopoietic and non-hematopoietic tissues. Isoform 1 is expressed by prostate cancer tumors and prostate cancer cell lines. The expression is greater in bone metastases than in primary tumors. Expression in osseous metastasis is greater than that in soft tissue metastasis. Isoform 2 is expressed in the small intestine, colon, lung, thyroid and in colorectal and pancreatic adenocarcinoma. Isoform 4 is expressed by both hematopoietic progenitor cells and bone marrow stromal cells.

Cellular localization

Alternative names

CD164, Sialomucin core protein 24, MUC-24, Endolyn, Multi-glycosylated core protein 24, MGC-24, MGC-24v

swissprot:Q04900 omim:603356 entrezGene:8763