UniProt | Protein Name |
---|---|
Q9H8P0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
androgen biosynthetic process |
|
|
dolichol metabolic process | ||
polyprenol catabolic process | ||
dolichol-linked oligosaccharide biosynthetic process | ||
dolichol biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | ||
polyprenol reductase activity | ||
3-oxo-5-alpha-steroid 4-dehydrogenase activity | ||
3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) |
DO ID | Disease Name | Source |
---|---|---|
DOID:0060870 | isolated growth hormone deficiency | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 | |
DOID:0070131 | autosomal dominant cutis laxa 3 | |
DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
DOID:0070133 | autosomal recessive cutis laxa type IB | |
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA | |
DOID:0070136 | autosomal dominant cutis laxa 2 | |
DOID:0070137 | autosomal recessive cutis laxa type IIB |
HPO ID | HPO Term |
---|---|
HP:0000962 | Hyperkeratosis |
HP:0000964 | Eczematoid dermatitis |
HP:0000973 | Cutis laxa |
HP:0000982 | Palmoplantar keratoderma |
HP:0000998 | Hypertrichosis |
HP:0001000 | Abnormality of skin pigmentation |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
Disease ID | Disease Name |
---|---|
OMIM:612379 |
|
ORPHA:324737 |
|
OMIM:612713 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179438 | WB:WBGene00007102 | ||
34136 | FB:FBgn0032014 | ||
100181505 | CIOIN05096 | ||
102363132 | LATCH09739 | ||
560717 | ZFIN:ZDB-GENE-030131-7915 | DANRE19475 | |
103045498 | ASTMX11111 | ||
108258126 | ICTPU20131 | ||
113586386 | ELEEL36915 | ||
106584121 | SALSA84800 | ||
115192382 | SALTR28684 |
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Last updated: August 19, 2024