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Metazoan complexes |
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Details of POR gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| POR | CYPOR | P16435 | NCPR_HUMAN | 5447 | ENSG00000127948 | NADPH--cytochrome P450 reductase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Note=The disease is caused by mutations affecting the gene represented in this entry. | 201750 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613571 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal diaphysis morphology, Abnormal external genitalia, Abnormal facial shape, Abnormal form of the vertebral bodies, Abnormal internal genitalia, Abnormalities of placenta and umbilical cord, Abnormality involving the diaphyses of the limbs, Abnormality of body weight, Abnormality of calvarial morphology, Abnormality of connective tissue, Abnormality of cranial sutures, Abnormality of female external genitalia, Abnormality of female internal genitalia, Abnormality of finger, Abnormality of globe location, Abnormality of head and neck, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of long bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of prenatal development or birth, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the amniotic fluid, Abnormality of the bladder, Abnormality of the bronchi, Abnormality of the calvaria, Abnormality of the carpal bones, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the cerebrum, Abnormality of the choanae, Abnormality of the clitoris, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the ear, Abnormality of the elbow, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the face, Abnormality of the female genitalia, Abnormality of the femur, Abnormality of the fontanelles and cranial sutures, Abnormality of the foot, Abnormality of the forearm, Abnormality of the forebrain, Abnormality of the forehead, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the hindbrain, Abnormality of the humeroradial joint, Abnormality of the humerus, Abnormality of the joints of the lower limbs, Abnormality of the joints of the upper limbs, Abnormality of the kidney, Abnormality of the labia, Abnormality of the larynx, Abnormality of the lower limb, Abnormality of the lower urinary tract, Abnormality of the male genitalia, Abnormality of the metencephalon, Abnormality of the middle ear, Abnormality of the midface, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the nose, Abnormality of the ocular region, Abnormality of the orbital region, Abnormality of the ovary, Abnormality of the penis, Abnormality of the radius, Abnormality of the respiratory system, Abnormality of the scrotum, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the tarsal bones, Abnormality of the testis, Abnormality of the tracheobronchial system, Abnormality of the ulna, Abnormality of the upper arm, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of the vagina, Abnormality of the vertebrae, Abnormality of the vertebral column, Abnormality of the wrist, Abnormality of the zygomatic arch, Abnormality of toe, Abnormal joint morphology, Abnormal localization of kidneys, Abnormal maternal serum screening, Abnormal shape of the frontal region, All, Ambiguous genitalia, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Arachnodactyly, Arnold-Chiari malformation, Autosomal recessive inheritance, Bifid scrotum, Bladder fistula, Bowed forearm bones, Bowing of the arm, Bowing of the legs, Bowing of the long bones, Brachycephaly, Bronchomalacia, Carpal synostosis, Cerebellar malformation, Choanal atresia, Choanal stenosis, Chordee, Clitoromegaly, Cloverleaf skull, Conductive hearing impairment, Contractures of the joints of the upper limbs, Craniosynostosis, Cryptorchidism, Decreased body weight, Displacement of the external urethral meatus, Femoral bowing, Flexion contracture, Frontal bossing, Functional abnormality of the middle ear, Genital hypoplasia, Genitourinary tract malformation, Growth abnormality, Hearing abnormality, Hearing impairment, Hemivertebrae, Horseshoe kidney, Humeroradial synostosis, Hypertelorism, Hypoplasia of penis, Hypoplastic genitalia, Hypospadias, Joint contracture of the hand, Labial hypoplasia, Laryngomalacia, Limb joint contracture, Long fingers, Long toe, Low maternal serum estriol, Malar flattening, Maternal virilization in pregnancy, Microcephaly, Micropenis, Mode of inheritance, Morphological abnormality of the central nervous system, Oligohydramnios, Ovarian cysts, Phenotypic abnormality, Polycystic ovaries, Prenatal maternal abnormality, Proptosis, Radioulnar synostosis, Scoliosis, Scrotal hypoplasia, Slender finger, Small for gestational age, Synostosis involving bones of the feet, Synostosis involving bones of the hand, Synostosis involving bones of the lower limbs, Synostosis involving bones of the upper limbs, Synostosis involving the elbow, Synostosis of carpals/tarsals, Synostosis of joints, Tarsal synostosis, Ulnar bowing, Urogenital fistula, Vaginal fistula, Vertebral segmentation defect, Vesicovaginal fistula.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Por | Cpr | emb-8 | --- |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
RAN | POR | 0.037019894 | RAN | POR | cpx144; cpx147 | no | no | no | Novel |
POR | XPO1 | 0.25812522 | POR | XPO1 | cpx147; cpx144 | no | no | no | Novel |