μ heavy-chain deficiency

Gene Information

Names

HUGO name: IGHM

Alias(es):

  • μ
  • Immunoglobin heavy constant μ
  • immunoglobulin μ
  • Ig μ chain C region

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Miscellaneous:

All 4 combinations of the s/g & v/g polymorphisms at positions 192 and 216 have been observed in human mu chains.

Structures (PDB)

Domains

Ch1 domain: 1-105

    Ch2 domain: 106-218

      Ch3 domain: 219-324

        Ch4 domain: 325-454

          Other features

          Disulfide bond interchain (with a light chain): 14

            Disulfide bond: 28-88

              Disulfide bond: 135-198

                Disulfide bond interchain (with a heavy chain): 215

                  Disulfide bond: 245-304

                    Disulfide bond interchain (with a heavy chain in another of the 5 tetrameric subunits of the molecule): 292

                      Disulfide bond: 352-414

                        Disulfide bond interchain (with a heavy chain): 453

                          Other related resourses:

                          Expression

                          Expression pattern for human

                          Tissue Expression (%) Clones
                          lymph 15.97 618:64395
                          adipose 11.76 6:849
                          B-cells 10.37 103:16533
                          lymph node, pool of 10 lymphomas 8.22 2:405
                          head/neck 6.38 2:522
                          spleen 4.37 19:7229
                          genitourinary tract 4.36 10:3813
                          colonic mucosa with ulcerative colitus 4.10 3:1218
                          pancreas, exocrine 3.03 39:21418
                          lung with fibrosis 2.25 2:1479

                          Animal models

                          Mouse

                          Fly