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FLASH GENE

Symbol

PHYH

contributors: np/ - updated : 06-02-2006

HGNC name	phytanoyl-CoA 2-hydroxylase
HGNC id	8940

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	22.33 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D10S249 - D10S226 - PHYH - D10S223 - D10S466 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006214 9 - 1620 NP_006205 38.5 338 - 2005 15930519 NM_001037537 8 splicing 1725 NP_001032626 - 238 - 2005 15930519 different 5' utr and multiple differences in the coding region

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune T cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a cleavable peroxisomal targeting signal type 2 (PTS2)

HOMOLOGY

Homologene

FAMILY

PhyH family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,peroxisome

basic FUNCTION	phytanoyl-CoA hydroxylase
	first step of alpha-oxydation pathway of phytanic acid to pristanic acid

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

organic acid

signaling

sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	iron Fe2+
	2 oxogluterate

protein

FKBP4

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RDPA

related resource

Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS