LOCUS AAD50076.1 448 aa PRT HUM 18-AUG-1999 DEFINITION Homo sapiens ectodysplasin-A receptor protein protein. ACCESSION AF130988-1 PROTEIN_ID AAD50076.1 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 4235) AUTHORS Monreal,A.W., Ferguson,B.M., Headon,D.J., Street,S.L., Overbeek,P.A. and Zonana,J. TITLE Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia JOURNAL Nat. Genet. 22 (4), 366-369 (1999) PUBMED 10431241 REFERENCE 2 (bases 1 to 4235) AUTHORS Monreal,A.W., Ferguson,B.M., Headon,D.J., Street,S., Overbeek,P.A. and Zonana,J. TITLE Direct Submission JOURNAL Submitted (24-FEB-1999) Molecular and Medical Genetics, Oregon Health Sciences University, 3181 S.W. Sam Jackson Park Rd. L103, Portland, OR 97201, USA FEATURES Qualifiers source /db_xref="H-InvDB:HIT000070733" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q11-q13" /note="77d fetal skin; 20-25 week fetal heart" protein /gene="EDAR" /note="TNF receptor homolog" BEGIN 1 MAHVGDCTQT PWLPVLVVSL MCSARAEYSN CGENEYYNQT TGLCQECPPC GPGEEPYLSC 61 GYGTKDEDYG CVPCPAEKFS KGGYQICRRH KDCEGFFRAT VLTPGDMEND AECGPCLPGY 121 YMLENRPRNI YGMVCYSCLL APPNTKECVG ATSGASANFP GTSGSSTLSP FQHAHKELSG 181 QGHLATALII AMSTIFIMAI AIVLIIMFYI LKTKPSAPAC CTSHPGKSVE AQVSKDEEKK 241 EAPDNVVMFS EKDEFEKLTA TPAKPTKSEN DASSENEQLL SRSVDSDEEP APDKQGSPEL 301 CLLSLVHLAR EKSATSNKSA GIQSRRKKIL DVYANVCGVV EGLSPTELPF DCLEKTSRML 361 SSTYNSEKAV VKTWRHLAES FGLKRDEIGG MTDGMQLFDR ISTAGYSIPE LLTKLVQIER 421 LDAVESLCAD ILEWAGVVPP ASQPHAAS //