Hi I was wondering if anyone has heard of STRA6 gene? My children are being tested for it. Doctors think it may be the reason I have 2 children with CDH and one with Micro/ana (small eye and no eye) TIA
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Hi I was wondering if anyone has heard of STRA6 gene? My children are being tested for it. Doctors think it may be the reason I have 2 children with CDH and one with Micro/ana (small eye and no eye) TIA
Very interesting. Have you also participated in the 3 big well known CDH genetic studies too? This may be of interest to them too. I have not heard about this gene, but I could give you the contacts for the 3 big studies and I am sure they would talk with you too. See what they say.
Tracy - mom to Ian, LCDH diagnosed at birth, 4/3/04. Ian was born at 36 weeks, spent 53 1/2 days in NICU, 7 days on ECMO, surgery was on day 5, 29 days on a vent, 23 days was an oscillating vent, 546 days on oxygen. Inguinal right and left hernias and undescended left testicle surgeries were done on day 48. Currently has heart related medical issues and exercise induced asthma, but is one happy, happy boy!! Also mom to Cole - 13, Shane - 9, and Toby - 4. CHERUBS Parent Advisory Board Member and Co-Chair, Volunteer Co-Coordinator, and Wyoming State Representative.
email: tmeats@cherubs-cdh.org
Here is what I found...
UniProtKB/Swiss-Prot: STRA6_HUMAN, Q9BX79
Function: May act as a high-affinity cell-surface receptor for the complex retinol-retinol binding protein (RBP/RBP4).
Acts by removing retinol from RBP/RBP4 and transports it across the plasma membrane, where it can be metabolized. This
mechanism does not depend on endocytosis. Binds to RBP/RBP4 with high affinity. Increases cellular retinol uptake from
the retinol-RBP complex (By similarity)
Apparently it is located on the 15th chromosome...
http://www.genecards.org/cgi-bin/carddisp.pl?gene=STRA6
Hope that helps!
Shelly Moore
Shelly Moore
CHERUBS Oregon Representative and Oregon Hospital Angel
CHERUBS Prayer Committee Member
CHERUBS Parental Advisory Board Member (2013-2015)
Email: oregon@cherubs-cdh.org
Facebook: http://www.facebook.com/Teckiemom
Grandmother to cherub angel Jayden, the only son to my born to youngest daughter, Alicia.
Jayden was diagnosed with CDH at his 17 week ultrasound with severe LCDH, stomach, intestines up as well as having polycystic kidneys. He was born February 19, 2010 at 36 weeks gestation.
Jayden spent 7 days on ECMO after which he was working on gaining strength for surgery when his polycystic kidneys started failing at about day 15, totally failing by day 19.
Jayden spent 4 days on dialysis before gaining his wings on March 14, 2010 at age 23 days.
Remembering Jayden - A Family's Journey in Coping with Loss to CDH
http://rememberingjayden.blogspot.com/
Jayden's CDH Story 2/19/10 - 3/14/10
http://www.youtube.com/watch?v=0fKsAsMS_ZA
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