Related Research Articles
Krabbe disease (KD) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1961).
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, respectively, depending on whether the damage is present before birth or occurs after. While all leukodystrophies are the result of genetic mutations, other demyelinating disorders have an autoimmune, infectious, or metabolic etiology.
Porphobilinogen deaminase (hydroxymethylbilane synthase, or uroporphyrinogen I synthase) is an enzyme (EC 2.5.1.61) that in humans is encoded by the HMBS gene. Porphobilinogen deaminase is involved in the third step of the heme biosynthetic pathway. It catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane while releasing four ammonia molecules:
Arylsulfatase A is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase is an enzyme that in humans is encoded by the AGA gene.
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.
Usherin is a protein that in humans is encoded by the USH2A gene.
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a protein which in humans is encoded by the TGFBI gene, locus 5q31.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Wolframin is a protein that in humans is encoded by the WFS1 gene.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
Myotubularin is a protein that in humans is encoded by the MTM1 gene.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.
Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene.
Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.
In molecular biology, glycoside hydrolase family 59 is a family of glycoside hydrolases.
References
- 1 2 3 "Entrez Gene: galactosylceramidase".
- ↑ Lee WC, Tsoi YK, Troendle FJ, et al. (August 2007). "Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi: 10.1096/fj.06-6169com . PMID 17403939. S2CID 19511563.
| GALC | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | GALC , entrez:2581, galactosylceramidase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606890; MGI: 95636; HomoloGene: 124; GeneCards: GALC; OMA:GALC - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
