LOCUS       EF186228                2065 bp    mRNA    linear   HUM 22-JAN-2007
DEFINITION  Homo sapiens mutant lipase H mRNA, complete cds.
ACCESSION   EF186228
VERSION     EF186228.1
KEYWORDS    .
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 2065)
  AUTHORS   Kazantseva,A., Goltsov,A., Zinchenko,R., Grigorenko,A.P.,
            Abrukova,A.V., Moliaka,Y.K., Kirillov,A.G., Guo,Z., Lyle,S.,
            Ginter,E.K. and Rogaev,E.I.
  TITLE     Human hair growth deficiency is linked to a genetic defect in the
            phospholipase gene LIPH
  JOURNAL   Science 314 (5801), 982-985 (2006)
   PUBMED   17095700
REFERENCE   2  (bases 1 to 2065)
  AUTHORS   Kazantseva,A., Goltsov,A., Zinchenko,R., Grigorenko,A.P.,
            Abrukova,A.V., Moliaka,Y.K., Kirillov,A.G., Ginter,E.K. and
            Rogaev,E.I.
  TITLE     Direct Submission
  JOURNAL   Submitted (14-DEC-2006) BNRI, University of Massachusetts Medical
            School, 303 Belmont, Worcester, MA 01604, USA
FEATURES             Location/Qualifiers
     source          1..2065
                     /db_xref="H-InvDB:HIT000395329"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /isolate="patient C"
                     /isolation_source="patient with hypotrichosis"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27"
                     /cell_type="keratinocytes"
     5'UTR           <1..87
     CDS             88..1341
                     /note="contains deletion of exon 4"
                     /codon_start=1
                     /product="mutant lipase H"
                     /protein_id="ABM67094.1"
                     /translation="MLRFYLFISLLCLSRSDAEETCPSFTRLSFHSAVVGTGLNVRLM
                     LYTRKNLTCAQTINSSAFGNLNVTKKTTFIVHGFRPTGSPPVWMDDLVKGLLSVEDMN
                     VVVVDWNRGATTLIYTHASSKTRKVAMVLKEFIDQMLAEGASLDDIYMIGVSLGAHIS
                     GFVGEMYDGWLGRITALGYKEPLGNIDFYPNGGLDQPGCPKTILGGFQYFKCDHQRSV
                     YLYLSSLRESCTITAYPCDSYQDYRNGKCVSCGTSQKESCPLLGYYADNWKDHLRGKD
                     PPMTKAFFDTAEESPFCMYHYFVDIITWNKNVRRGDITIKLRDKAGNTTESKINHEPT
                     TFQKYHQVSLLARFNQDLDKVAAISLMFSTGSLIGPRYKLRILRMKLRSLAHPERPQL
                     CRYDLVLMENVETVFQPILCPELQL"
     3'UTR           1342..>2065
BASE COUNT          576 a          464 c          491 g          534 t
ORIGIN      
        1 tgagcaaaat cccacagtgg aaactcttaa gcctctgcga agtaaatcat tcttgtgaat
       61 gtgacacacg atctctccag tttccatatg ttgagattct acttattcat cagtttgttg
      121 tgcttgtcaa gatcagacgc agaagaaaca tgtccttcat tcaccaggct gagctttcac
      181 agtgcagtgg ttggtacggg actaaatgtg aggctgatgc tctacacaag gaaaaacctg
      241 acctgcgcac aaaccatcaa ctcctcagct tttgggaact tgaatgtgac caagaaaacc
      301 accttcattg tccatggatt caggccaaca ggctcccctc ctgtttggat ggatgactta
      361 gtaaagggtt tgctctctgt tgaagacatg aacgtagttg ttgttgattg gaatcgagga
      421 gctacaactt taatatatac ccatgcctct agtaagacca gaaaagtagc catggtcttg
      481 aaggaattta ttgaccagat gttggcagaa ggagcttctc ttgatgacat ttacatgatc
      541 ggagtaagtc taggagccca catatctggg tttgttggag agatgtacga tggatggctg
      601 gggagaatta cagcactggg ctacaaggag ccattaggaa acatagactt ctacccaaat
      661 ggaggattgg atcaacctgg ctgccccaaa acaatattgg gaggatttca gtattttaaa
      721 tgtgaccacc agaggtctgt atacctgtac ctgtcttccc tgagagagag ctgcaccatc
      781 actgcgtatc cctgtgactc ctaccaggat tataggaatg gcaagtgtgt cagctgcggc
      841 acgtcacaaa aagagtcctg tccccttctg ggctattatg ctgataattg gaaagaccat
      901 ctaaggggga aagatcctcc aatgacgaag gcattctttg acacagctga ggagagccca
      961 ttctgcatgt atcattactt tgtggatatt ataacatgga acaagaatgt aagaagaggg
     1021 gacattacca tcaaattgag agacaaagct ggaaacacca cagaatccaa aatcaatcat
     1081 gaacccacca catttcagaa atatcaccaa gtgagtctac ttgcaagatt taatcaagat
     1141 ctggataaag tggctgcaat ttccttgatg ttctctacag gatctctaat aggcccaagg
     1201 tacaagctca ggattctccg aatgaagtta aggtcccttg cccatccgga gaggcctcag
     1261 ctgtgtcggt atgatcttgt cctgatggaa aacgttgaaa cagtcttcca acctattctt
     1321 tgcccagagt tgcagttgta actgttgcca ggacacatgg ccataaataa tagaaagaaa
     1381 gctacaacca caggctgttt gaaagcttca cctcaccttt ctgcaaagca gaaaaagtat
     1441 gaaaaaaacc aaggcttttt tcagtagcgt cctatggatg tcacattgta catcaaacaa
     1501 ccttgtgatt ataaaacgat cctgggaagg agcccctaac tagggcaagt cagaaatagc
     1561 caggctcgca gcagcgcagc gctgtgtctg ctgtgtcctg gggcctccct tgttccgacc
     1621 tgtcaattct gctgcctgtc acgcgggtgg ttctgcccat cgcggctgcg ggtcaagcat
     1681 cttcaaggga aggacggact ggaggcctca ccgtggactc aactctgcat tctccgtgcc
     1741 acattcctcc agttcccaca cgtagaaggg aacgaaactg acgtctacct catggggctg
     1801 ctgtgtgggt ttgggaggca aaaatctatg aagggttttt tgaaatccca taggtgccac
     1861 atctatgaga tgtttgataa atgtgaatat gcttttacat ttgggcttat ctaatttgca
     1921 ataagagagc ctctctctat caacaccagc ttctctctcg ggctgtttgc tcagggaagg
     1981 caagaaagcc acgtgctggc cctctgcctt ctctaaagtg ctgttggagc atggaggagc
     2041 tggaggagat ggggatggac tgaca
//