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Immunogen sequence: MDALKSAGR ALIRSPSLAK QSWGGGGRHR KLPENWTDTR ETLLEGMLFS LKYLGMTLVE QPKGEELSAA AIKRIVATAK ASGKKLQKVT LKVSPRGIIL TDNLTNQLIE NVSIYRISYC TADKMHDKVF AYIAQSQHNQ SLECHAFLCT KRKMAQAVTL TVAQAFKVAF EFWQVSKEEK EKRDKASQEG GDVLGARQDC TPPLKSLVAT GNLLDLEETA KAPLSTVSAN TTNMDEVPRP QALSGSSVVW ELDDGLDEAF SRLAQSRTNP QVLDTGLTAQ DMHYAQCLSP VDWDKPDSSG TEQDDLFSF (1-308 aa encoded by BC029770 )
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Autosomal recessive hypercholesterolemia protein; DKFZp586D0624; LDL receptor adaptor protein; Low density lipoprotein receptor adapter protein 1; MGC34705; RP11-70P17.2
Gene Aliases: ARH; ARH1; ARH2; FHCB1; FHCB2; LDLRAP1
UniProt ID: (Human) Q5SW96
Entrez Gene ID: (Human) 26119
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