Gene: TTPA

Alternate names for this Gene: ATTP|AVED|TTP1|alphaTTP

Gene Summary: This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa.

Gene is located in Chromosome: 8

Location in Chromosome : 8q12.3

Description of this Gene: alpha tocopherol transfer protein

Type of Gene: protein-coding

rs121917849 in TTPA gene and Ataxia with vitamin E deficiency PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 15300460 2004 Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

PMID 15065857 2004 Molecular determinants of heritable vitamin E deficiency.

PMID 9463307 1998 Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

PMID 7566022 1995 Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

PMID 8602747 1996 Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 12470185 2002 A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia.

PMID 24369383 2014 Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.

PMID 12899840 2003 The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein.

PMID 22696689 2011 Epilepsy in a patient with ataxia caused by vitamin E deficiency.

PMID 19566498 2009 Ataxia with vitamin E deficiency in southeast Norway, case report.

PMID 25614784 2015 Ataxia with vitamin e deficiency in norway.

PMID 18458655 2008 A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.

PMID 12039660 2002 Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

PMID 15953402 2005 Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

PMID 7719340 1995 Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein.

PMID 26068213 2015 Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

PMID 12907280 2003 Ataxia with vitamin E deficiency and severe dystonia: report of a case.

PMID 12112220 2002 Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

PMID 23445347 2014 Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.

PMID 11013295 2000 Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients.

PMID 9588854 1998 Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.

PMID 10360777 1999 Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene.

PMID 3837850 1985 Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells?

rs4739046 in TTPA gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.