SEMA7A

Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of pro-inflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes attachment, spreading and dendrite outgrowth in melanocytes.

Cholestasis, progressive familial intrahepatic, 11

PFIC11

An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease.

None

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

Belongs to the semaphorin family.

Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal chord, lung, heart, adrenal gland, lymph nodes, thymus, intestine and kidney.

• Cell membrane
• Lipid-anchor
• GPI-anchor
• Extracellular side
• Detected in a punctate pattern on the cell membrane of basal and supra-basal skin keratinocytes.

CD108, SEMAL, SEMA7A, Semaphorin-7A, CDw108, JMH blood group antigen, John-Milton-Hargen human blood group Ag, Semaphorin-K1, Semaphorin-L, Sema K1, Sema L

• entrezGene:8482
• omim:607961
• swissprot:O75326

Proteins

Immuno-oncology

74824Da