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Gonosomal recessive genes are also passed on by carriers. The term is used in human genetics in cases of hereditary traits in which the observed trait lies on the female sex chromosome, the X chromosome. These are sex-linked genes. The carriers are always women. Women have two homologous sex chromosomes (XX).
An obligate carrier is an individual who may be clinically unaffected but who must carry a gene mutation based on analysis of the family history; usually applies to disorders inherited in an autosomal recessive and X-linked recessive manner.
The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. [ 1 ] [ 2 ] Most members of the SLC group are located in the cell membrane . The SLC gene nomenclature system was originally proposed by the HUGO Gene Nomenclature Committee ( HGNC ) and is the basis for the official HGNC names of ...
There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene.
A carrier is a person who inherited one abnormal gene from one of their parents. [2] Carriers often show no symptoms of the genetic disorder that they carry an abnormal gene for. Usually the only time a person finds out that they are a carrier for a specific genetic disorder is when they have an affected child. [2]
Children of either sex have an even chance of receiving either of their mother's two X chromosomes, one of which contains the defective gene in question. When the father alone is the carrier of a defective gene associated with a disease or disorder, he too will have the disorder. His children will inherit the disorder as follows:
[15] [16] Mutations of mitochondrial carrier genes involved in mitochondrial functions other than oxidative phosphorylation are responsible for carnitine/acylcarnitine carrier deficiency, HHH syndrome, aspartate/glutamate isoform 2 deficiency, Amish microcephaly, and neonatal myoclonic epilepsy. These disorders are characterized by specific ...
13358 Ensembl ENSG00000100075 ENSMUSG00000003528 UniProt P53007 Q8JZU2 RefSeq (mRNA) NM_001256534 NM_001287387 NM_005984 NM_153150 RefSeq (protein) NP_001243463 NP_001274316 NP_005975 NP_001243463.1 NP_001274316.1 NP_694790 Location (UCSC) Chr 22: 19.18 – 19.18 Mb Chr 16: 17.74 – 17.75 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Tricarboxylate transport protein, mitochondrial ...