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Gene Review:

Phyhip - phytanoyl-CoA hydroxylase interacting protein

Mus musculus

Synonyms: AW049870, C630010D02Rik, Lnap1ip, PAHX-AP#1, PAHX-AP1, ...

Koh, J.T. et al., Koh, J.T. et al., Lee, Z.H. et al., Koh, J.T. et al.

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Disease relevance of Phyhip

PAHX-AP1 is also suggested to be involved in the development of the central neurologic deficits of Refsum disease [1].
In situ hybridization analyses of the brain showed specific localization of PAHX-AP #1 to the supragranular layer in the cerebral cortex, dentate gyrus, hippocampus, Purkinje cell layer, deep cerebellar nucleus, trigeminal nucleus, abducent nucleus, facial nucleus, cochlear and vestibular nucleus, ganglion cell and nuclear layer of the retina [2].
Our results indicate that, in the PAHX-AP1 TG heart, the modulation of voltage-gated potassium channel and ADRB1 expression seem to be important in the electrophysiological changes associated with altered ion channel functions, but ADRB1 is not involved in the greater susceptibility to aconitine-induced arrhythmia [3].
Our results indicate that the chronic atrial tachycardia by overexpressed neuron-specific PAHX-AP1 transgene in atrium may be responsible for the increased susceptibility to arrhythmia [4].

High impact information on Phyhip

Previously, we identified a novel neuron-specific protein (PAHX-AP1) that binds to Refsum disease gene product (PAHX), and we developed transgenic (TG) mice that overexpress heart-targeted PAHX-AP1 [3].
Propranolol pretreatment, a non-specific beta-adrenoceptor antagonist, blocked aconitine-induced arrhythmia in non-TG mice, but not in PAHX-AP1 TG mice [3].
RT-PCR analyses revealed that the cardiac expression of adrenergic beta(1)-receptor (ADRB1) was markedly lower, whereas voltage-gated potassium channel expression (Kv2.1) was higher in PAHX-AP1 TG mice compared with non-TG mice [3].
In this report, we developed heart-targeted transgenic (TG) mice under the control of alpha-myosin heavy chain promoter to determine whether cardiac overexpression of PAHX-AP1 provokes cardiac involvement symptoms [4].
Northern and in situ hybridization analyses revealed PAHX-AP1 transcript was overexpressed in TG atrium, especially in the sinoatrial node [4].

Other interactions of Phyhip

Recently, we identified a novel neuron-specific PAHX-associated protein (PAHX-AP1), which binds to the Refsum disease gene (PAHX) [4].

References

Characterization of mouse brain-specific angiogenesis inhibitor 1 (BAI1) and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a novel BAI1-binding protein. Koh, J.T., Lee, Z.H., Ahn, K.Y., Kim, J.K., Bae, C.S., Kim, H.H., Kee, H.J., Kim, K.K. Brain Res. Mol. Brain Res. (2001) [Pubmed]
Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. Lee, Z.H., Kim, H., Ahn, K.Y., Seo, K.H., Kim, J.K., Bae, C.S., Kim, K.K. Brain Res. Mol. Brain Res. (2000) [Pubmed]
Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein. Koh, J.T., Jeong, B.C., Kim, J.H., Ahn, Y.K., Lee, H.S., Baik, Y.H., Kim, K.K. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. Koh, J.T., Choi, H.H., Ahn, K.Y., Kim, J.U., Kim, J.H., Chun, J.Y., Baik, Y.H., Kim, K.K. Biochem. Biophys. Res. Commun. (2001) [Pubmed]

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PHYHIP	Bos taurus
PHYHIP	Canis lupus familiaris
PHYHIP	Homo sapiens
PHYHIP	Macaca mulatta
PHYHIP	Pan troglodytes
Phyhip	Rattus norvegicus
LOC102551958	Rattus norvegicus
phyhip	Xenopus (Silurana) tropicalis

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