Reference for IGHMBP2. Search for IGHMBP2

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IGHMBP2

IGHMBP2

Protein-coding gene in the species Homo sapiens

protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene. Mutations in the IGHMBP2 gene cause

IGHMBP2

Distal spinal muscular atrophy type 1

Medical condition

of body muscles. The condition is caused by a genetic mutation in the IGHMBP2 gene and is inherited in an autosomal recessive manner. There is no known

Distal spinal muscular atrophy type 1

Distal_spinal_muscular_atrophy_type_1

Protein ZGRF1

Protein-coding gene in the species Homo sapiens

sites. C4orf21 shows predicted protein interaction with its AQR, DNA2, IGHMBP2, LOC91431, and SETX paralogs. Upon examination of variable GEO profiles

Protein ZGRF1

Protein_ZGRF1

Mary Reilly (academic)

Irish neurologist

methionyl-tRNA synthetase (MARS); she has already conducted functional analysis of IGHMBP2. Reilly works with Muscular Dystrophy UK on muscle-wasting conditions.

Mary Reilly (academic)

Mary_Reilly_(academic)

List of genetic disorders

hereditary motor neuropathies, multiple types HSPB8, HSPB1, HSPB3, GARS, REEP1, IGHMBP2, SLC5A7, DCTN1, TRPV4, SIGMAR1 Distal muscular dystrophy Dysferlin, TIA1

List of genetic disorders

List_of_genetic_disorders

Charcot–Marie–Tooth disease classifications

Peripheral nervous system disorders

Autosomal dominant CMT2R 615490 TRIM2 4q31.3 Autosomal recessive CMT2S 616155 IGHMBP2 11q13.3 Autosomal recessive CMT2T 617017 MME 3q25 Autosomal recessive CMT2U

Charcot–Marie–Tooth disease classifications

Charcot–Marie–Tooth_disease_classifications

Distal hereditary motor neuronopathies

Group of motor neuron diseases

atrophy type VB Locus and phenotype overlapping with SPG-31 DHMN6 604320 IGHMBP2 11q13.3 Autosomal recessive Distal spinal muscular atrophy type 1 (DSMA1);

Distal hereditary motor neuronopathies

Distal_hereditary_motor_neuronopathies

Spinal muscular atrophies

Muscular degenerative disorders caused by dysfunction of spinal neurons

1 (SMARD1) Distal hereditary motor neuronopathy type 6 (DHMN6) 604320 IGHMBP2 11q13.3 Autosomal recessive Affects mainly infant boys, similar to SMA

Spinal muscular atrophies

Spinal_muscular_atrophies

List of human protein-coding genes 4

HGNC:23620; Q9H665 7523 IGFN1 HGNC:24607; Q86VF2 7524 IGH HGNC:5477 7525 IGHMBP2 HGNC:5542; P38935 7526 IGIP HGNC:33847; A6NJ69 7527 IGK HGNC:5715 7528

List of human protein-coding genes 4

List_of_human_protein-coding_genes_4

List of OMIM disorder codes

613376; HSPB3 Neuronopathy, distal hereditary motor, type VI; 604320; IGHMBP2 Neuropathy, congenital hypomyelinating, 1; 605253; EGR2 Neuropathy, congenital

List of OMIM disorder codes

List_of_OMIM_disorder_codes