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ush1ga | Usher syndrome 1Ga (autosomal recessive). (472 aa) | ||||
chm | Rab proteins geranylgeranyltransferase component A; Substrate-binding subunit (component A) of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. (666 aa) | ||||
cdh23 | Cadherin-related 23. (2883 aa) | ||||
s1pr2 | Sphingosine 1-phosphate receptor 2; Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P receptor is critical for cell migration and epithelial integrity during vertebrate embryogenesis. Receptor for the chemokine-like protein FAM19A5 (By similarity). Mediates the inhibitory effect of FAM19A5 on vascular smooth muscle cell proliferation and migration (By similarity). (370 aa) | ||||
dcdc2b | Doublecortin domain-containing 2B. (447 aa) | ||||
atp2b1a | Calcium-transporting ATPase; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium. (1228 aa) | ||||
tecta | Tectorin alpha. (2201 aa) | ||||
kremen1 | Kringle-containing transmembrane protein 1. (465 aa) | ||||
get1 | Tail-anchored protein insertion receptor WRB; Receptor for ASNA1/TRC40-mediated insertion of tail-anchored (TA) proteins into the ER membrane. (170 aa) | ||||
ush1c | Usher syndrome 1C (Autosomal recessive, severe). (548 aa) | ||||
pax5 | Paired box 5. (396 aa) | ||||
eya1 | Eyes absent homolog; Belongs to the HAD-like hydrolase superfamily. EYA family. (609 aa) | ||||
ap1b1 | AP complex subunit beta. (947 aa) | ||||
slc26a2 | Sulfate transporter; Sulfate transporter. May play a role in endochondral bone formation; Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. (699 aa) | ||||
grhl1 | Grainyhead-like transcription factor 1. (613 aa) | ||||
pcdh15a | Protocadherin-related 15a. (1796 aa) | ||||
grxcr1a | Glutaredoxin and cysteine-rich domain-containing 1 a. (295 aa) |