Harmonizome 3.0

Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

Hereditary motor and sensory neuropathy V

Neuropathy, hereditary motor and sensory, Russe type

spastic paraplegia, optic atrophy, and neuropathy

auditory neuropathy, X-linked recessive 1

Hereditary sensory neuropathy, type IB

Distal hereditary motor neuropathy, Jerash type

Neuropathy, hereditary motor and sensory, Okinawa type

putative paraneoplastic antigen-like protein 6B-like protein LOC649238

paraneoplastic antigen like 6A-like

paraneoplastic Ma antigen 1

This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]

paraneoplastic Ma antigen 3

The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

paraneoplastic Ma antigen 2

Predicted to be involved in positive regulation of apoptotic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

paraneoplastic Ma antigen family member 5

This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]

paraneoplastic Ma antigen family member 6A

paraneoplastic Ma antigen family member 6B (pseudogene)

paraneoplastic Ma antigen family-like 2

paraneoplastic Ma antigen family-like 1

putative paraneoplastic antigen-like protein 6B-like