STIM1

STIM12017-01-05T21:22:00+00:00

STIM1

GENETICS

The gene on chromosome 11p15.5 that encodes stromal interaction molecule 1 (OMIM: 605921, UniProtKB: Q13586), a type 1 transmembrane protein which mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels. STIM1may play a role in cancer and other diseases involving chromosome region 11p15.5, as well as early haematopoiesis  by mediating attachment to stromal cells

Molecular pathology Defects of STIM1 cause:

• Immunodeficiency 10 (OMIM:612783)

• Myopathy—tubular aggregate—1 (OMIM:160565)

• Stormorken syndrome (OMIM:185070)

Alterations in the chromosome region 11p15.5 are associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancers. 

Synonyms GOK, IMD10, TAM, D11S4896E

Reference http://www.genecards.org/cgi-bin/carddisp.pl?gene=STIM1
http://www.uniprot.org/uniprot/Q13586

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.