Keywords - Kallmann syndrome (KW-0956)
- DefinitionProtein which, if defective, causes Kallmann syndrome, a disorder characterized by the association of hypogonadotropic hypogonadism with anosmia or hyposmia. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). In some patients other developmental anomalies can be present such as renal agenesis, cleft lip/palate, selective tooth agenesis and bimanual synkinesis.
- Synonyms
- Category
- Gene Ontology (GO)
- Ancestors
- GraphicalKallmann syndrome
Related UniProtKB entries
Browse all 21 entries- Semaphorin-3A · Gene: SEMA3A (SEMAD) · Homo sapiens (Human) · 771 amino acids · Evidence at protein level · Annotation score: 5/5
- NMDA receptor synaptonuclear signaling and neuronal migration factor · Gene: NSMF (NELF) · Homo sapiens (Human) · 530 amino acids · Evidence at protein level · Annotation score: 5/5
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 · Gene: SMCHD1 (KIAA0650) · Homo sapiens (Human) · EC:3.6.1.- · 2005 amino acids · Evidence at protein level · Annotation score: 5/5
- Prokineticin receptor 2 · Gene: PROKR2 (GPR73L1, PKR2) · Homo sapiens (Human) · 384 amino acids · Evidence at protein level · Annotation score: 5/5
- Interleukin-17 receptor D · Gene: IL17RD (IL17RLM, SEF) · Homo sapiens (Human) · 739 amino acids · Evidence at protein level · Annotation score: 5/5
- Protein NDNF · Gene: NDNF (C4orf31) · Homo sapiens (Human) · 568 amino acids · Evidence at protein level · Annotation score: 5/5
- Fibroblast growth factor 17 · Gene: FGF17 · Homo sapiens (Human) · 216 amino acids · Evidence at protein level · Annotation score: 5/5
- Fibroblast growth factor receptor 1 · Gene: FGFR1 (BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR) · Homo sapiens (Human) · EC:2.7.10.1 · 822 amino acids · Evidence at protein level · Annotation score: 5/5
- Transcription factor SOX-10 · Gene: SOX10 · Homo sapiens (Human) · 466 amino acids · Evidence at protein level · Annotation score: 5/5
- Transcription factor 12 · Gene: TCF12 (BHLHB20, HEB, HTF4) · Homo sapiens (Human) · 682 amino acids · Evidence at protein level · Annotation score: 5/5
- Leucine-rich repeat transmembrane protein FLRT3 · Gene: FLRT3 (KIAA1469) · Homo sapiens (Human) · 649 amino acids · Evidence at protein level · Annotation score: 5/5
- Heparan-sulfate 6-O-sulfotransferase 1 · Gene: HS6ST1 (HS6ST) · Homo sapiens (Human) · EC:2.8.2.- · 411 amino acids · Evidence at protein level · Annotation score: 5/5
- Anosmin-1 · Gene: ANOS1 (ADMLX, KAL, KAL1, KALIG1) · Homo sapiens (Human) · 680 amino acids · Evidence at protein level · Annotation score: 5/5
- Dual specificity protein phosphatase 6 · Gene: DUSP6 (MKP3, PYST1) · Homo sapiens (Human) · EC:3.1.3.16, EC:3.1.3.48 · 381 amino acids · Evidence at protein level · Annotation score: 5/5
- WD repeat-containing protein 11 · Gene: WDR11 (BRWD2, KIAA1351, WDR15) · Homo sapiens (Human) · 1224 amino acids · Evidence at protein level · Annotation score: 5/5
- Prokineticin-2 · Gene: PROK2 (BV8) · Homo sapiens (Human) · 129 amino acids · Evidence at protein level · Annotation score: 5/5
- Fez family zinc finger protein 1 · Gene: FEZF1 (FEZ, ZNF312B) · Homo sapiens (Human) · 475 amino acids · Evidence at protein level · Annotation score: 5/5
- Progonadoliberin-1 · Gene: GNRH1 (GNRH, GRH, LHRH) · Homo sapiens (Human) · 92 amino acids · Evidence at protein level · Annotation score: 5/5
- Fibroblast growth factor 8 · Gene: FGF8 (AIGF) · Homo sapiens (Human) · 233 amino acids · Evidence at protein level · Annotation score: 5/5
- Protein sprouty homolog 4 · Gene: SPRY4 · Homo sapiens (Human) · 299 amino acids · Evidence at protein level · Annotation score: 5/5
- Chromodomain-helicase-DNA-binding protein 7 · Gene: CHD7 (KIAA1416) · Homo sapiens (Human) · EC:3.6.4.12 · 2997 amino acids · Evidence at protein level · Annotation score: 5/5