| Tbio | Endothelin-converting enzyme-like 1 |
May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides.
This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| ARTHROGRYPOSIS, DISTAL, TYPE 5D | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| atypical teratoid / rhabdoid tumor | 5112 | 1.9e-02 |
| aldosterone-producing adenoma | 665 | 2.7e-02 |
| pituitary cancer | 1972 | 3.6e-02 |
| Disease | log2 FC | p |
|---|---|---|
| aldosterone-producing adenoma | 1.221 | 2.7e-02 |
| atypical teratoid / rhabdoid tumor | 1.400 | 1.9e-02 |
| pituitary cancer | -1.100 | 3.6e-02 |
MEPPYSLTAHYDEFQEVKYVSRCGAGGARGASLPPGFPLGAARSATGARSGLPRWNRREVCLLSGLVFAA 1 - 70 GLCAILAAMLALKYLGPVAAGGGACPEGCPERKAFARAARFLAANLDASIDPCQDFYSFACGGWLRRHAI 71 - 140 PDDKLTYGTIAAIGEQNEERLRRLLARPGGGPGGAAQRKVRAFFRSCLDMREIERLGPRPMLEVIEDCGG 141 - 210 WDLGGAEERPGVAARWDLNRLLYKAQGVYSAAALFSLTVSLDDRNSSRYVIRIDQDGLTLPERTLYLAQD 211 - 280 EDSEKILAAYRVFMERVLSLLGADAVEQKAQEILQVEQQLANITVSEHDDLRRDVSSMYNKVTLGQLQKI 281 - 350 TPHLRWKWLLDQIFQEDFSEEEEVVLLATDYMQQVSQLIRSTPHRVLHNYLVWRVVVVLSEHLSPPFREA 351 - 420 LHELAQEMEGSDKPQELARVCLGQANRHFGMALGALFVHEHFSAASKAKVQQLVEDIKYILGQRLEELDW 421 - 490 MDAETRAAARAKLQYMMVMVGYPDFLLKPDAVDKEYEFEVHEKTYFKNILNSIRFSIQLSVKKIRQEVDK 491 - 560 STWLLPPQALNAYYLPNKNQMVFPAGILQPTLYDPDFPQSLNYGGIGTIIGHELTHGYDDWGGQYDRSGN 561 - 630 LLHWWTEASYSRFLRKAECIVRLYDNFTVYNQRVNGKHTLGENIADMGGLKLAYHAYQKWVREHGPEHPL 631 - 700 PRLKYTHDQLFFIAFAQNWCIKRRSQSIYLQVLTDKHAPEHYRVLGSVSQFEEFGRAFHCPKDSPMNPAH 701 - 770 KCSVW 771 - 775 //
