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PHF8

PHF8

Protein-coding gene in the species Homo sapiens

PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene. PHF8 belongs to the family of ferrous iron and alpha-ketoglutarate-dependent

PHF8

Cleft lip and cleft palate

Birth defect of the palate and upper lip

PHF8. The research found that PHF8 encodes for a histone lysine demethylase, and is involved in epigenetic regulation. The catalytic activity of PHF8

Cleft lip and cleft palate

Cleft_lip_and_cleft_palate

Intellectual disability

Generalized neurodevelopmental disorder

X-linked intellectual disability (OMIM: 300263) as caused by mutations in the PHF8 gene (OMIM: 300560). In the rarest of cases, abnormalities with the X or

Intellectual disability

Intellectual_disability

X-linked recessive inheritance

Mode of inheritance

disability and facial dysmorphism, caused by mutations in the histone demethylase PHF8 Simpson–Golabi–Behmel syndrome; coarse faces with protruding jaw and tongue

X-linked recessive inheritance

X-linked_recessive_inheritance

Xp11.2 duplication

Genetic disorder

number of several genes including HUWE1, KDM5C, IQSEC2, TSPYL2, SHROOM4, PHF8 and FAM120C. The HECT, UBA and WWE domain-containing protein 1 (HUWE1) is

Xp11.2 duplication

Xp11.2_duplication

List of genetic disorders

Sickle cell anemia 11p15 P Siderius X-linked intellectual disability syndrome PHF8 X-Linked Recessive Sideroblastic anemia ABCB7, SLC25A38, GLRX5 recessive

List of genetic disorders

List_of_genetic_disorders

X-linked intellectual disability

Medical condition

is involved in the regulation of transcription and chromatin remodeling. PHF8: PHD finger protein 8 belongs to the family of ferrous iron and 2-oxoglutarate

X-linked intellectual disability

X-linked_intellectual_disability

Nutritional epigenetics

Study of how diet changes gene expression

recruit coactivators such as NCOA3, CBP histone acetyltransferases, and PHF8 to alter chromatin structure and gene expression. In rat models, vitamin

Nutritional epigenetics

Nutritional_epigenetics

List of human protein-coding genes 6

Q7RTV0 12061 PHF6 HGNC:18145; Q8IWS0 12062 PHF7 HGNC:18458; Q9BWX1 12063 PHF8 HGNC:20672; Q9UPP1 12064 PHF10 HGNC:18250; Q8WUB8 12065 PHF11 HGNC:17024;

List of human protein-coding genes 6

List_of_human_protein-coding_genes_6

List of OMIM disorder codes

300354; CUL4B Mental retardation syndrome, X-linked, Siderius type; 300263; PHF8 Mental retardation, autosomal dominant 1; 156200; MBD5 Mental retardation

List of OMIM disorder codes

List_of_OMIM_disorder_codes