Aristaless related homeobox is a protein that in humans is encoded by the ARX gene. [5]
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene. [5]
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is involved in CNS and pancreas development. [5]
Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice). [5]
Warkany syndrome 1 was an X-chromosome linked recessive genetic condition originally described by Joseph Warkany in 1961 as part of an article on intrauterine growth retardation - the condition is no longer diagnosed. The family history was consistent with X-linked recessive inheritance of intrauterine growth retardation and small head size, but these features are not unique to this condition and no linkage to a specific gene was ever established. In fact, the condition appears to have been abandoned, given that the OMIM number assigned to it and listed in a review article on X-linked mental retardation has been removed from the OMIM database. Furthermore, this condition is no longer mentioned in a more recent review of X-linked mental retardation.
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.
The human gene SRD5A2 encodes the 3-oxo-5α-steroid 4-dehydrogenase 2 enzyme, also known as 5α-reductase type 2 (5αR2), one of three isozymes of 5α-reductase.
Rab GDP dissociation inhibitor alpha is a protein that in humans is encoded by the GDI1 gene.
Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by the SLC17A5 gene.
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.
Tetraspanin-7 is a protein that in humans is encoded by the TSPAN7 gene.
X-linked interleukin-1 receptor accessory protein-like 1 is a protein that in humans is encoded by the IL1RAPL1 gene. IL1RAPL1 is composed of 11 exons, about 1.37 Mb total.
Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene.
Spermine synthase is an enzyme that in humans is encoded by the SMS gene. The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes a ubiquitous enzyme of polyamine metabolism.
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.
Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.
Acrocallosal syndrome is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in KIF7 are causative for ACLS, and mutations in GLI3 are associated with a similar syndrome.
Gerodermia osteodysplastica (GO) is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability.
Arylsulfatase E, also known as ARSE, is an enzyme that, in humans, is encoded by the ARSE gene.
Desmosterolosis in medicine and biology is a defect in cholesterol biosynthesis. It results in an accumulation of desmosterol and a variety of associated symptoms. Only two cases have been reported as of 2007. The condition is due to inactivating mutations in 24-dehydrocholesterol reductase. Certain anticholesterolemic and antiestrogenic drugs such as triparanol, ethamoxytriphetol, and clomifene have been found to inhibit conversion of desmosterol into cholesterol and to induce desmosterolosis, for instance cataracts.
Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic disorder. The disorder is characterized by partial aniridia, ataxia, and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner. Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene. There is currently no treatment or therapy for the underlying MED12 malfunction, and the exact cause of the disorder remains unclear.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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