LOCUS       AAC95426.1               506 aa    PRT              HUM 15-DEC-1998
DEFINITION  Homo sapiens oxysterol 7alpha-hydroxylase protein.
ACCESSION   AF029403-1
PROTEIN_ID  AAC95426.1
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1661)
  AUTHORS   Setchell,K.D., Schwarz,M., O'Connell,N.C., Lund,E.G., Davis,D.L.,
            Lathe,R., Thompson,H.R., Weslie Tyson,R., Sokol,R.J. and
            Russell,D.W.
  TITLE     Identification of a new inborn error in bile acid synthesis:
            mutation of the oxysterol 7alpha-hydroxylase gene causes severe
            neonatal liver disease
  JOURNAL   J. Clin. Invest. 102 (9), 1690-1703 (1998)
   PUBMED   9802883
REFERENCE   2  (bases 1 to 1661)
  AUTHORS   Lund,E.G. and Russell,D.W.
  TITLE     Direct Submission
  JOURNAL   Submitted (09-OCT-1997) Department of Molecular Genetics,
            University of Texas Southwestern Medical Center at Dallas, 5323
            Harry Hines Blvd., Dallas, TX 75235, USA
FEATURES             Qualifiers
     source          /db_xref="H-InvDB:HIT000062981"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.3"
                     /tissue_type="spleen; liver"
     protein         /gene="CYP7b1"
BEGIN
        1 MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK GWLPYLGVVL
       61 NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ LVIKNHKQLS FRVFSNKLLE
      121 KAFSISQLQK NHDMNDELHL CYQFLQGKSL DILLESMMQN LKQVFEPQLL KTTSWDTAEL
      181 YPFCSSIIFE ITFTTIYGKV IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS
      241 IREKIIKCFS SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT
      301 MFWAMYYLLR HPEAMAAVRD EIDHLLQSTG QKKGSGFPIH LTREQLDSLI CLESSIFEAL
      361 RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL HGDPEIFEAP EEFRYDRFIE
      421 DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP GRFFALMEIK QLLVILLTYF DLEIIDDKPI
      481 GLNYSRLLFG IQYPDSDVLF RYKVKS
//